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GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000240242.2

Allele description [Variation Report for GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1]

GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1

Genes:
  • BRINP3:BMP/retinoic acid inducible neural specific 3 [Gene - OMIM - HGNC]
  • DHX9:DExH-box helicase 9 [Gene - OMIM - HGNC]
  • EDEM3:ER degradation enhancing alpha-mannosidase like protein 3 [Gene - OMIM - HGNC]
  • NPL:N-acetylneuraminate pyruvate lyase [Gene - OMIM - HGNC]
  • SHCBP1L:SHC binding and spindle associated 1 like [Gene - OMIM - HGNC]
  • SMG7:SMG7 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SWT1:SWT1 RNA endoribonuclease homolog [Gene - OMIM - HGNC]
  • ARPC5:actin related protein 2/3 complex subunit 5 [Gene - OMIM - HGNC]
  • APOBEC4:apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 [Gene - OMIM - HGNC]
  • CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]
  • C1orf21:chromosome 1 open reading frame 21 [Gene - HGNC]
  • COLGALT2:collagen beta(1-O)galactosyltransferase 2 [Gene - OMIM - HGNC]
  • GLUL:glutamate-ammonia ligase [Gene - OMIM - HGNC]
  • HMCN1:hemicentin 1 [Gene - OMIM - HGNC]
  • IVNS1ABP:influenza virus NS1A binding protein [Gene - OMIM - HGNC]
  • LAMC1:laminin subunit gamma 1 [Gene - OMIM - HGNC]
  • LAMC2:laminin subunit gamma 2 [Gene - OMIM - HGNC]
  • NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
  • NIBAN1:niban apoptosis regulator 1 [Gene - OMIM - HGNC]
  • NMNAT2:nicotinamide nucleotide adenylyltransferase 2 [Gene - OMIM - HGNC]
  • OCLM:oculomedin [Gene - OMIM - HGNC]
  • ODR4:odr-4 GPCR localization factor homolog [Gene - OMIM - HGNC]
  • PDC:phosducin [Gene - OMIM - HGNC]
  • PLA2G4A:phospholipase A2 group IVA [Gene - OMIM - HGNC]
  • PTGS2:prostaglandin-endoperoxide synthase 2 [Gene - OMIM - HGNC]
  • PRG4:proteoglycan 4 [Gene - OMIM - HGNC]
  • RGL1:ral guanine nucleotide dissociation stimulator like 1 [Gene - OMIM - HGNC]
  • RGS16:regulator of G protein signaling 16 [Gene - OMIM - HGNC]
  • RGS8:regulator of G protein signaling 8 [Gene - OMIM - HGNC]
  • RGSL1:regulator of G protein signaling like 1 [Gene - OMIM - HGNC]
  • RNASEL:ribonuclease L [Gene - OMIM - HGNC]
  • RNF2:ring finger protein 2 [Gene - OMIM - HGNC]
  • TRMT1L:tRNA methyltransferase 1 like [Gene - OMIM - HGNC]
  • TSEN15:tRNA splicing endonuclease subunit 15 [Gene - OMIM - HGNC]
  • TPR:translocated promoter region, nuclear basket protein [Gene - OMIM - HGNC]
  • TEDDM1:transmembrane epididymal protein 1 [Gene - HGNC]
  • ZNF648:zinc finger protein 648 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q25.3-31.2
Genomic location:
Chr1: 181572003 - 191524283 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1
HGVS:
NC_000001.10:g.(?_181572003)_(191524283_?)del

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298511GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jan 20, 2016)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298511.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022