ClinVar

GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1

Genes:

• PFKFB4:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 [Gene - OMIM - HGNC]
• ALS2CL:ALS2 C-terminal like [Gene - OMIM - HGNC]
• ARIH2OS:ARIH2 opposite strand lncRNA [Gene - HGNC]
• ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
• CCR1:C-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
• CCR2:C-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
• CCR3:C-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
• CCR5:C-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
• CCR9:C-C motif chemokine receptor 9 [Gene - OMIM - HGNC]
• CCRL2:C-C motif chemokine receptor like 2 [Gene - OMIM - HGNC]
• CXCR6:C-X-C motif chemokine receptor 6 [Gene - OMIM - HGNC]
• CLEC3B:C-type lectin domain family 3 member B [Gene - OMIM - HGNC]
• CDCP1:CUB domain containing protein 1 [Gene - OMIM - HGNC]
• DALRD3:DALR anticodon binding domain containing 3 [Gene - OMIM - HGNC]
• DHX30:DExH-box helicase 30 [Gene - OMIM - HGNC]
• FBXW12:F-box and WD repeat domain containing 12 [Gene - OMIM - HGNC]
• FYCO1:FYVE and coiled-coil domain autophagy adaptor 1 [Gene - OMIM - HGNC]
• LIMD1:LIM domain containing 1 [Gene - OMIM - HGNC]
• NDUFAF3:NADH:ubiquinone oxidoreductase complex assembly factor 3 [Gene - OMIM - HGNC]
• NCKIPSD:NCK interacting protein with SH3 domain [Gene - OMIM - HGNC]
• NME6:NME/NM23 nucleoside diphosphate kinase 6 [Gene - OMIM - HGNC]
• SACM1L:SAC1 like phosphatidylinositide phosphatase [Gene - OMIM - HGNC]
• SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]
• SCAP:SREBF chaperone [Gene - OMIM - HGNC]
• SMARCC1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 [Gene - OMIM - HGNC]
• WDR6:WD repeat domain 6 [Gene - OMIM - HGNC]
• XCR1:X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
• ARIH2:ariadne RBR E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• CELSR3:cadherin EGF LAG seven-pass G-type receptor 3 [Gene - OMIM - HGNC]
• CAMP:cathelicidin antimicrobial peptide [Gene - OMIM - HGNC]
• CDC25A:cell division cycle 25A [Gene - OMIM - HGNC]
• CSPG5:chondroitin sulfate proteoglycan 5 [Gene - OMIM - HGNC]
• CCDC12:coiled-coil domain containing 12 [Gene - HGNC]
• CCDC51:coiled-coil domain containing 51 [Gene - OMIM - HGNC]
• COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
• CRIPTO:cripto, EGF-CFC family member [Gene - OMIM - HGNC]
• ELP6:elongator acetyltransferase complex subunit 6 [Gene - OMIM - HGNC]
• EXOSC7:exosome component 7 [Gene - OMIM - HGNC]
• QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]
• IMPDH2:inosine monophosphate dehydrogenase 2 [Gene - OMIM - HGNC]
• IP6K2:inositol hexakisphosphate kinase 2 [Gene - OMIM - HGNC]
• KLHL18:kelch like family member 18 [Gene - OMIM - HGNC]
• KIF9:kinesin family member 9 [Gene - OMIM - HGNC]
• LTF:lactotransferrin [Gene - OMIM - HGNC]
• LRRC2:leucine rich repeat containing 2 [Gene - OMIM - HGNC]
• LZTFL1:leucine zipper transcription factor like 1 [Gene - OMIM - HGNC]
• LARS2:leucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
• MIR191:microRNA 191 [Gene - OMIM - HGNC]
• MAP4:microtubule associated protein 4 [Gene - OMIM - HGNC]
• MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
• NBEAL2:neurobeachin like 2 [Gene - OMIM - HGNC]
• PTH1R:parathyroid hormone 1 receptor [Gene - OMIM - HGNC]
• PLXNB1:plexin B1 [Gene - OMIM - HGNC]
• P4HTM:prolyl 4-hydroxylase, transmembrane [Gene - OMIM - HGNC]
• PRKAR2A:protein kinase cAMP-dependent type II regulatory subunit alpha [Gene - OMIM - HGNC]
• PTPN23:protein tyrosine phosphatase non-receptor type 23 [Gene - OMIM - HGNC]
• RTP3:receptor transporter protein 3 [Gene - OMIM - HGNC]
• SPINK8:serine peptidase inhibitor Kazal type 8 (putative) [Gene - HGNC]
• PRSS50:serine protease 50 [Gene - OMIM - HGNC]
• SHISA5:shisa family member 5 [Gene - OMIM - HGNC]
• SLC25A20:solute carrier family 25 member 20 [Gene - OMIM - HGNC]
• SLC26A6:solute carrier family 26 member 6 [Gene - OMIM - HGNC]
• SLC6A20:solute carrier family 6 member 20 [Gene - OMIM - HGNC]
• TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
• TGM4:transglutaminase 4 [Gene - OMIM - HGNC]
• TMA7:translation machinery associated 7 homolog [Gene - OMIM - HGNC]
• TMIE:transmembrane inner ear [Gene - OMIM - HGNC]
• TMEM158:transmembrane protein 158 [Gene - OMIM - HGNC]
• TMEM89:transmembrane protein 89 [Gene - HGNC]
• UQCRC1:ubiquinol-cytochrome c reductase core protein 1 [Gene - OMIM - HGNC]
• UCN2:urocortin 2 [Gene - OMIM - HGNC]
• ZDHHC3:zinc finger DHHC-type palmitoyltransferase 3 [Gene - OMIM - HGNC]
• ZNF589:zinc finger protein 589 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3p21.31

Genomic location:

Chr3: 44948482 - 49115809 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1

HGVS:

NC_000003.11:g.(?_44948482)_(49115809_?)del

This HGVS expression did not pass validation