ClinVar

GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1

Genes:

• AGAP2-AS1:AGAP2 antisense RNA 1 [Gene - HGNC]
• ATP23:ATP23 metallopeptidase and ATP synthase assembly factor homolog [Gene - HGNC]
• AGAP2:ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
• CTDSP2:CTD small phosphatase 2 [Gene - OMIM - HGNC]
• DDIT3:DNA damage inducible transcript 3 [Gene - OMIM - HGNC]
• EEF1AKMT3:EEF1A lysine methyltransferase 3 [Gene - OMIM - HGNC]
• GIHCG:GIHCG inhibitor of miR-200b/200a/429 expression [Gene - HGNC]
• GLI1:GLI family zinc finger 1 [Gene - OMIM - HGNC]
• LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]
• LRP1-AS:LRP1 antisense RNA [Gene - HGNC]
• NDUFA4L2:NDUFA4 mitochondrial complex associated like 2 [Gene - HGNC]
• NAB2:NGFI-A binding protein 2 [Gene - OMIM - HGNC]
• OS9:OS9 endoplasmic reticulum lectin [Gene - OMIM - HGNC]
• R3HDM2:R3H domain containing 2 [Gene - HGNC]
• ARHGAP9:Rho GTPase activating protein 9 [Gene - OMIM - HGNC]
• ARHGEF25:Rho guanine nucleotide exchange factor 25 [Gene - OMIM - HGNC]
• STAC3:SH3 and cysteine rich domain 3 [Gene - OMIM - HGNC]
• LOC112163619:Sharpr-MPRA regulatory region 15392 [Gene]
• LOC112163617:Sharpr-MPRA regulatory region 225 [Gene]
• LOC112163618:Sharpr-MPRA regulatory region 358 [Gene]
• LOC112163615:Sharpr-MPRA regulatory region 4597 [Gene]
• TSFM:Ts translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
• LOC110121363:VISTA enhancer hs1427 [Gene]
• LOC110121374:VISTA enhancer hs1468 [Gene]
• AVIL:advillin [Gene - OMIM - HGNC]
• B4GALNT1:beta-1,4-N-acetyl-galactosaminyltransferase 1 [Gene - OMIM - HGNC]
• CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]
• CYP27B1:cytochrome P450 family 27 subfamily B member 1 [Gene - OMIM - HGNC]
• DTX3:deltex E3 ubiquitin ligase 3 [Gene - OMIM - HGNC]
• DCTN2:dynactin subunit 2 [Gene - OMIM - HGNC]
• INHBC:inhibin subunit beta C [Gene - OMIM - HGNC]
• INHBE:inhibin subunit beta E [Gene - OMIM - HGNC]
• KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]
• LRIG3:leucine rich repeats and immunoglobulin like domains 3 [Gene - OMIM - HGNC]
• LINC02388:long intergenic non-protein coding RNA 2388 [Gene - HGNC]
• LINC02403:long intergenic non-protein coding RNA 2403 [Gene - HGNC]
• LINC02448:long intergenic non-protein coding RNA 2448 [Gene - HGNC]
• MARCHF9:membrane associated ring-CH-type finger 9 [Gene - OMIM - HGNC]
• MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
• MBD6:methyl-CpG binding domain protein 6 [Gene - HGNC]
• METTL1:methyltransferase like 1 [Gene - OMIM - HGNC]
• MIR1228:microRNA 1228 [Gene - HGNC]
• MIR26A2:microRNA 26a-2 [Gene - OMIM - HGNC]
• MIR616:microRNA 616 [Gene - OMIM - HGNC]
• MIR6758:microRNA 6758 [Gene - HGNC]
• MIR6759:microRNA 6759 [Gene - HGNC]
• MYO1A:myosin IA [Gene - OMIM - HGNC]
• NXPH4:neurexophilin 4 [Gene - OMIM - HGNC]
• NEMP1:nuclear envelope integral membrane protein 1 [Gene - OMIM - HGNC]
• PIP4K2C:phosphatidylinositol-5-phosphate 4-kinase type 2 gamma [Gene - OMIM - HGNC]
• SHMT2:serine hydroxymethyltransferase 2 [Gene - OMIM - HGNC]
• STAT6:signal transducer and activator of transcription 6 [Gene - OMIM - HGNC]
• SLC16A7:solute carrier family 16 member 7 [Gene - OMIM - HGNC]
• SLC26A10:solute carrier family 26 member 10 [Gene - HGNC]
• TSPAN31:tetraspanin 31 [Gene - OMIM - HGNC]
• LOC100506869:uncharacterized LOC100506869 [Gene]
• LOC101927583:uncharacterized LOC101927583 [Gene]
• LOC283387:uncharacterized LOC283387 [Gene]

Variant type:

copy number loss

Cytogenetic location:

12q13.3-14.1

Genomic location:

• Chr12: 57041158 - 60273934 (on Assembly GRCh38)
• Chr12: 57434942 - 60667715 (on Assembly GRCh37)
• Chr12: 55721209 - 58953982 (on Assembly NCBI36)

Preferred name:

GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1

HGVS:

• NC_000012.12:g.(?_57041158)_(60273934_?)del
• NC_000012.10:g.(?_55721209)_(58953982_?)del
• NC_000012.11:g.(?_57434942)_(60667715_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv577389; dbVar: nsv531531

Observations:

1