U.S. flag

An official website of the United States government

GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000053789.5

Allele description [Variation Report for GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1]

GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1

Genes:
  • HTR6:5-hydroxytryptamine receptor 6 [Gene - OMIM - HGNC]
  • LOC129929551:ATAC-STARR-seq lymphoblastoid active region 283 [Gene]
  • LOC129929552:ATAC-STARR-seq lymphoblastoid active region 285 [Gene]
  • LOC129929553:ATAC-STARR-seq lymphoblastoid active region 286 [Gene]
  • LOC129929554:ATAC-STARR-seq lymphoblastoid active region 287 [Gene]
  • LOC129929555:ATAC-STARR-seq lymphoblastoid active region 289 [Gene]
  • LOC129929556:ATAC-STARR-seq lymphoblastoid active region 290 [Gene]
  • LOC129929557:ATAC-STARR-seq lymphoblastoid active region 291 [Gene]
  • LOC129929558:ATAC-STARR-seq lymphoblastoid active region 292 [Gene]
  • LOC129929562:ATAC-STARR-seq lymphoblastoid active region 293 [Gene]
  • LOC129929563:ATAC-STARR-seq lymphoblastoid active region 295 [Gene]
  • LOC129929565:ATAC-STARR-seq lymphoblastoid active region 296 [Gene]
  • LOC129929566:ATAC-STARR-seq lymphoblastoid active region 297 [Gene]
  • LOC129929569:ATAC-STARR-seq lymphoblastoid active region 299 [Gene]
  • LOC129929570:ATAC-STARR-seq lymphoblastoid active region 300 [Gene]
  • LOC129929571:ATAC-STARR-seq lymphoblastoid active region 301 [Gene]
  • LOC129929572:ATAC-STARR-seq lymphoblastoid active region 302 [Gene]
  • LOC129929573:ATAC-STARR-seq lymphoblastoid active region 303 [Gene]
  • LOC129929574:ATAC-STARR-seq lymphoblastoid active region 304 [Gene]
  • LOC129929576:ATAC-STARR-seq lymphoblastoid active region 305 [Gene]
  • LOC129929579:ATAC-STARR-seq lymphoblastoid active region 306 [Gene]
  • LOC129929580:ATAC-STARR-seq lymphoblastoid active region 307 [Gene]
  • LOC129929581:ATAC-STARR-seq lymphoblastoid active region 308 [Gene]
  • LOC129929583:ATAC-STARR-seq lymphoblastoid active region 309 [Gene]
  • LOC129929584:ATAC-STARR-seq lymphoblastoid active region 310 [Gene]
  • LOC129929585:ATAC-STARR-seq lymphoblastoid active region 311 [Gene]
  • LOC129929586:ATAC-STARR-seq lymphoblastoid active region 312 [Gene]
  • LOC129929587:ATAC-STARR-seq lymphoblastoid active region 313 [Gene]
  • LOC129929588:ATAC-STARR-seq lymphoblastoid active region 314 [Gene]
  • LOC129929589:ATAC-STARR-seq lymphoblastoid active region 315 [Gene]
  • LOC129929590:ATAC-STARR-seq lymphoblastoid active region 316 [Gene]
  • LOC129929591:ATAC-STARR-seq lymphoblastoid active region 317 [Gene]
  • LOC129929593:ATAC-STARR-seq lymphoblastoid active region 318 [Gene]
  • LOC129929594:ATAC-STARR-seq lymphoblastoid active region 319 [Gene]
  • LOC129929595:ATAC-STARR-seq lymphoblastoid active region 320 [Gene]
  • LOC129929604:ATAC-STARR-seq lymphoblastoid active region 325 [Gene]
  • LOC129929607:ATAC-STARR-seq lymphoblastoid active region 326 [Gene]
  • LOC129929608:ATAC-STARR-seq lymphoblastoid active region 328 [Gene]
  • LOC129929609:ATAC-STARR-seq lymphoblastoid active region 329 [Gene]
  • LOC129929610:ATAC-STARR-seq lymphoblastoid active region 330 [Gene]
  • LOC129929611:ATAC-STARR-seq lymphoblastoid active region 331 [Gene]
  • LOC129929614:ATAC-STARR-seq lymphoblastoid active region 332 [Gene]
  • LOC129929615:ATAC-STARR-seq lymphoblastoid active region 333 [Gene]
  • LOC129929619:ATAC-STARR-seq lymphoblastoid active region 334 [Gene]
  • LOC129929625:ATAC-STARR-seq lymphoblastoid active region 336 [Gene]
  • LOC129929626:ATAC-STARR-seq lymphoblastoid active region 337 [Gene]
  • LOC129929628:ATAC-STARR-seq lymphoblastoid active region 341 [Gene]
  • LOC129929630:ATAC-STARR-seq lymphoblastoid active region 345 [Gene]
  • LOC129929633:ATAC-STARR-seq lymphoblastoid active region 347 [Gene]
  • LOC129929636:ATAC-STARR-seq lymphoblastoid active region 348 [Gene]
  • LOC129929637:ATAC-STARR-seq lymphoblastoid active region 349 [Gene]
  • LOC129929641:ATAC-STARR-seq lymphoblastoid active region 350 [Gene]
  • LOC129929642:ATAC-STARR-seq lymphoblastoid active region 351 [Gene]
  • LOC129929550:ATAC-STARR-seq lymphoblastoid silent region 346 [Gene]
  • LOC129929559:ATAC-STARR-seq lymphoblastoid silent region 347 [Gene]
  • LOC129929560:ATAC-STARR-seq lymphoblastoid silent region 348 [Gene]
  • LOC129929561:ATAC-STARR-seq lymphoblastoid silent region 349 [Gene]
  • LOC129929564:ATAC-STARR-seq lymphoblastoid silent region 350 [Gene]
  • LOC129929567:ATAC-STARR-seq lymphoblastoid silent region 351 [Gene]
  • LOC129929568:ATAC-STARR-seq lymphoblastoid silent region 353 [Gene]
  • LOC129929575:ATAC-STARR-seq lymphoblastoid silent region 356 [Gene]
  • LOC129929577:ATAC-STARR-seq lymphoblastoid silent region 357 [Gene]
  • LOC129929578:ATAC-STARR-seq lymphoblastoid silent region 359 [Gene]
  • LOC129929582:ATAC-STARR-seq lymphoblastoid silent region 362 [Gene]
  • LOC129929592:ATAC-STARR-seq lymphoblastoid silent region 363 [Gene]
  • LOC129929596:ATAC-STARR-seq lymphoblastoid silent region 364 [Gene]
  • LOC129929597:ATAC-STARR-seq lymphoblastoid silent region 365 [Gene]
  • LOC129929598:ATAC-STARR-seq lymphoblastoid silent region 366 [Gene]
  • LOC129929599:ATAC-STARR-seq lymphoblastoid silent region 368 [Gene]
  • LOC129929600:ATAC-STARR-seq lymphoblastoid silent region 369 [Gene]
  • LOC129929601:ATAC-STARR-seq lymphoblastoid silent region 370 [Gene]
  • LOC129929602:ATAC-STARR-seq lymphoblastoid silent region 375 [Gene]
  • LOC129929603:ATAC-STARR-seq lymphoblastoid silent region 376 [Gene]
  • LOC129929605:ATAC-STARR-seq lymphoblastoid silent region 377 [Gene]
  • LOC129929606:ATAC-STARR-seq lymphoblastoid silent region 378 [Gene]
  • LOC129929612:ATAC-STARR-seq lymphoblastoid silent region 379 [Gene]
  • LOC129929613:ATAC-STARR-seq lymphoblastoid silent region 380 [Gene]
  • LOC129929616:ATAC-STARR-seq lymphoblastoid silent region 381 [Gene]
  • LOC129929617:ATAC-STARR-seq lymphoblastoid silent region 382 [Gene]
  • LOC129929618:ATAC-STARR-seq lymphoblastoid silent region 383 [Gene]
  • LOC129929620:ATAC-STARR-seq lymphoblastoid silent region 384 [Gene]
  • LOC129929621:ATAC-STARR-seq lymphoblastoid silent region 385 [Gene]
  • LOC129929622:ATAC-STARR-seq lymphoblastoid silent region 386 [Gene]
  • LOC129929623:ATAC-STARR-seq lymphoblastoid silent region 387 [Gene]
  • LOC129929624:ATAC-STARR-seq lymphoblastoid silent region 388 [Gene]
  • LOC129929627:ATAC-STARR-seq lymphoblastoid silent region 390 [Gene]
  • LOC129929629:ATAC-STARR-seq lymphoblastoid silent region 391 [Gene]
  • LOC129929631:ATAC-STARR-seq lymphoblastoid silent region 392 [Gene]
  • LOC129929632:ATAC-STARR-seq lymphoblastoid silent region 393 [Gene]
  • LOC129929634:ATAC-STARR-seq lymphoblastoid silent region 394 [Gene]
  • LOC129929635:ATAC-STARR-seq lymphoblastoid silent region 397 [Gene]
  • LOC129929638:ATAC-STARR-seq lymphoblastoid silent region 398 [Gene]
  • LOC129929639:ATAC-STARR-seq lymphoblastoid silent region 399 [Gene]
  • LOC129929640:ATAC-STARR-seq lymphoblastoid silent region 400 [Gene]
  • LOC126805641:BRD4-independent group 4 enhancer GRCh37_chr1:19446050-19447249 [Gene]
  • LOC126805644:BRD4-independent group 4 enhancer GRCh37_chr1:19487245-19488444 [Gene]
  • LOC126805645:BRD4-independent group 4 enhancer GRCh37_chr1:20076458-20077657 [Gene]
  • LOC126805652:BRD4-independent group 4 enhancer GRCh37_chr1:21620661-21621860 [Gene]
  • LOC126805643:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:19482517-19483716 [Gene]
  • LOC126805647:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20511679-20512878 [Gene]
  • LOC126805648:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20537509-20538708 [Gene]
  • LOC126805650:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:20706555-20707754 [Gene]
  • LOC126805653:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:21791822-21793021 [Gene]
  • LOC126805655:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 [Gene]
  • ECE1-AS1:ECE1 antisense RNA 1 [Gene - HGNC]
  • EMC1-AS1:EMC1 antisense RNA 1 [Gene - HGNC]
  • EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]
  • LOC126805642:MED14-independent group 3 enhancer GRCh37_chr1:19448647-19449846 [Gene]
  • LOC126805646:MED14-independent group 3 enhancer GRCh37_chr1:20091493-20092692 [Gene]
  • LOC126805649:MED14-independent group 3 enhancer GRCh37_chr1:20592229-20593428 [Gene]
  • LOC122056781:MED14-independent group 3 enhancer GRCh37_chr1:21587933-21589132 [Gene]
  • LOC126805654:MED14-independent group 3 enhancer GRCh37_chr1:21996570-21997769 [Gene]
  • MICOS10-DT:MICOS10 divergent transcript [Gene - HGNC]
  • MICOS10-NBL1:MICOS10-NBL1 readthrough [Gene - HGNC]
  • LOC129388461:MPRA-validated peak101 silencer [Gene]
  • LOC129388462:MPRA-validated peak103 silencer [Gene]
  • LOC129388463:MPRA-validated peak106 silencer [Gene]
  • LOC129388464:MPRA-validated peak108 silencer [Gene]
  • LOC129388459:MPRA-validated peak97 silencer [Gene]
  • LOC129388460:MPRA-validated peak99 silencer [Gene]
  • MRTO4:MRT4 homolog, ribosome maturation factor [Gene - OMIM - HGNC]
  • NBL1:NBL1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • NBPF3:NBPF member 3 [Gene - OMIM - HGNC]
  • LOC111501793:NFE2L2 motif-containing MPRA enhancer 38 [Gene]
  • LOC132088603:Neanderthal introgressed variant-containing enhancer experimental_1531 [Gene]
  • LOC132088604:Neanderthal introgressed variant-containing enhancer experimental_1534 [Gene]
  • LOC132088606:Neanderthal introgressed variant-containing enhancer experimental_1574 [Gene]
  • LOC132088607:Neanderthal introgressed variant-containing enhancer experimental_1580 [Gene]
  • LOC132088608:Neanderthal introgressed variant-containing enhancer experimental_1609 [Gene]
  • LOC132090659:Neanderthal introgressed variant-containing enhancer experimental_1624 [Gene]
  • LOC132088609:Neanderthal introgressed variant-containing enhancer experimental_1646 [Gene]
  • LOC132088610:Neanderthal introgressed variant-containing enhancer experimental_1651 [Gene]
  • LOC132088611:Neanderthal introgressed variant-containing enhancer experimental_1658 [Gene]
  • LOC132088612:Neanderthal introgressed variant-containing enhancer experimental_1659 [Gene]
  • LOC132088613:Neanderthal introgressed variant-containing enhancer experimental_1661 [Gene]
  • LOC132088614:Neanderthal introgressed variant-containing enhancer experimental_1663 [Gene]
  • LOC132088615:Neanderthal introgressed variant-containing enhancer experimental_1667 [Gene]
  • LOC132088665:Neanderthal introgressed variant-containing enhancer experimental_5374 [Gene]
  • LOC132088668:Neanderthal introgressed variant-containing enhancer experimental_5416 [Gene]
  • LOC132088669:Neanderthal introgressed variant-containing enhancer experimental_5420 [Gene]
  • OTUD3:OTU deubiquitinase 3 [Gene - OMIM - HGNC]
  • LOC126805639:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:19337151-19338350 [Gene]
  • LOC126805640:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:19407589-19408788 [Gene]
  • LOC126805651:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:20822193-20823392 [Gene]
  • LOC108175348:PAX7 intron homotypic clusters of transcription factor binding sites enhancer [Gene]
  • LOC108254694:PAX7 promoter region [Gene]
  • PINK1-AS:PINK1 antisense RNA [Gene - HGNC]
  • PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
  • RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
  • RNF186-AS1:RNF186 antisense RNA 1 [Gene - HGNC]
  • SH2D5:SH2 domain containing 5 [Gene - HGNC]
  • LOC122056778:Sharpr-MPRA regulatory region 10658 [Gene]
  • LOC121725003:Sharpr-MPRA regulatory region 12165 [Gene]
  • LOC120893120:Sharpr-MPRA regulatory region 15718 [Gene]
  • LOC122056782:Sharpr-MPRA regulatory region 1847 [Gene]
  • LOC122056776:Sharpr-MPRA regulatory region 1855 [Gene]
  • LOC122056786:Sharpr-MPRA regulatory region 2075 [Gene]
  • LOC122056777:Sharpr-MPRA regulatory region 2200 [Gene]
  • LOC122056780:Sharpr-MPRA regulatory region 2723 [Gene]
  • LOC120893117:Sharpr-MPRA regulatory region 3035 [Gene]
  • LOC120893118:Sharpr-MPRA regulatory region 3300 [Gene]
  • LOC120893122:Sharpr-MPRA regulatory region 3950 [Gene]
  • LOC122056783:Sharpr-MPRA regulatory region 4165 [Gene]
  • LOC122056784:Sharpr-MPRA regulatory region 4422 [Gene]
  • LOC120893121:Sharpr-MPRA regulatory region 6146 [Gene]
  • LOC122056779:Sharpr-MPRA regulatory region 6877 [Gene]
  • LOC120893116:Sharpr-MPRA regulatory region 7483 [Gene]
  • LOC122056785:Sharpr-MPRA regulatory region 8542 [Gene]
  • LOC120893119:Sharpr-MPRA regulatory region 8954 [Gene]
  • LOC111828503:Sharpr-MPRA regulatory regions 2400 and 6542 [Gene]
  • UBXN10:UBX domain protein 10 [Gene - OMIM - HGNC]
  • WNT4:Wnt family member 4 [Gene - OMIM - HGNC]
  • ALDH4A1:aldehyde dehydrogenase 4 family member A1 [Gene - OMIM - HGNC]
  • AKR7L:aldo-keto reductase family 7 like (gene/pseudogene) [Gene - OMIM - HGNC]
  • AKR7A2:aldo-keto reductase family 7 member A2 [Gene - OMIM - HGNC]
  • AKR7A3:aldo-keto reductase family 7 member A3 [Gene - OMIM - HGNC]
  • ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
  • CAMK2N1:calcium/calmodulin dependent protein kinase II inhibitor 1 [Gene - OMIM - HGNC]
  • CAPZB:capping actin protein of muscle Z-line subunit beta [Gene - OMIM - HGNC]
  • CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
  • CELA3A:chymotrypsin like elastase 3A [Gene - OMIM - HGNC]
  • CELA3B:chymotrypsin like elastase 3B [Gene - OMIM - HGNC]
  • CDA:cytidine deaminase [Gene - OMIM - HGNC]
  • DDOST:dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
  • ECE1:endothelin converting enzyme 1 [Gene - OMIM - HGNC]
  • EIF4G3:eukaryotic translation initiation factor 4 gamma 3 [Gene - OMIM - HGNC]
  • FAM43B:family with sequence similarity 43 member B [Gene - HGNC]
  • HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
  • HP1BP3:heterochromatin protein 1 binding protein 3 [Gene - OMIM - HGNC]
  • IGSF21:immunoglobin superfamily member 21 [Gene - HGNC]
  • IFFO2:intermediate filament family orphan 2 [Gene - HGNC]
  • KLHDC7A:kelch domain containing 7A [Gene - HGNC]
  • KIF17:kinesin family member 17 [Gene - OMIM - HGNC]
  • LINC01141:long intergenic non-protein coding RNA 1141 [Gene - HGNC]
  • LINC01635:long intergenic non-protein coding RNA 1635 [Gene - HGNC]
  • LINC01757:long intergenic non-protein coding RNA 1757 [Gene - HGNC]
  • LINC02596:long intergenic non-protein coding RNA 2596 [Gene - HGNC]
  • LINC00339:long intergenic non-protein coding RNA 339 [Gene - HGNC]
  • LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
  • MIR1256:microRNA 1256 [Gene - HGNC]
  • MIR1290:microRNA 1290 [Gene - HGNC]
  • MIR4418:microRNA 4418 [Gene - HGNC]
  • MIR4695:microRNA 4695 [Gene - HGNC]
  • MIR6084:microRNA 6084 [Gene - HGNC]
  • MUL1:mitochondrial E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • MICOS10:mitochondrial contact site and cristae organizing system subunit 10 [Gene - OMIM - HGNC]
  • PAX7:paired box 7 [Gene - OMIM - HGNC]
  • PLA2G2A:phospholipase A2 group IIA [Gene - OMIM - HGNC]
  • PLA2G2C:phospholipase A2 group IIC [Gene - HGNC]
  • PLA2G2D:phospholipase A2 group IID [Gene - OMIM - HGNC]
  • PLA2G2E:phospholipase A2 group IIE [Gene - OMIM - HGNC]
  • PLA2G2F:phospholipase A2 group IIF [Gene - OMIM - HGNC]
  • PLA2G5:phospholipase A2 group V [Gene - OMIM - HGNC]
  • RNF186:ring finger protein 186 [Gene - OMIM - HGNC]
  • SLC66A1:solute carrier family 66 member 1 [Gene - OMIM - HGNC]
  • TAS1R2:taste 1 receptor member 2 [Gene - OMIM - HGNC]
  • TMCO4:transmembrane and coiled-coil domains 4 [Gene - HGNC]
  • UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]
  • USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]
  • LOC100506730:uncharacterized LOC100506730 [Gene]
  • LOC117779438:uncharacterized LOC117779438 [Gene]
  • VWA5B1:von Willebrand factor A domain containing 5B1 [Gene - HGNC]
  • ZBTB40:zinc finger and BTB domain containing 40 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.13-36.12
Genomic location:
Preferred name:
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1
HGVS:
  • NC_000001.11:g.(?_18347821)_(22512894_?)del
  • NC_000001.10:g.(?_18674315)_(22839387_?)del
  • NC_000001.9:g.(?_18546902)_(22711974_?)del
Links:
dbVar: nssv577191; dbVar: nsv532448
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081152GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081152.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023