ClinVar

GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1

Genes:

• LOC130008821:ATAC-STARR-seq lymphoblastoid active region 7059 [Gene]
• LOC130008822:ATAC-STARR-seq lymphoblastoid active region 7060 [Gene]
• LOC130008825:ATAC-STARR-seq lymphoblastoid active region 7061 [Gene]
• LOC130008827:ATAC-STARR-seq lymphoblastoid active region 7062 [Gene]
• LOC130008828:ATAC-STARR-seq lymphoblastoid active region 7063 [Gene]
• LOC130008829:ATAC-STARR-seq lymphoblastoid active region 7064 [Gene]
• LOC130008830:ATAC-STARR-seq lymphoblastoid active region 7065 [Gene]
• LOC130008831:ATAC-STARR-seq lymphoblastoid active region 7066 [Gene]
• LOC130008832:ATAC-STARR-seq lymphoblastoid active region 7067 [Gene]
• LOC130008833:ATAC-STARR-seq lymphoblastoid active region 7068 [Gene]
• LOC130008834:ATAC-STARR-seq lymphoblastoid active region 7069 [Gene]
• LOC130008835:ATAC-STARR-seq lymphoblastoid active region 7070 [Gene]
• LOC130008836:ATAC-STARR-seq lymphoblastoid active region 7071 [Gene]
• LOC130008837:ATAC-STARR-seq lymphoblastoid active region 7072 [Gene]
• LOC130008838:ATAC-STARR-seq lymphoblastoid active region 7073 [Gene]
• LOC130008842:ATAC-STARR-seq lymphoblastoid active region 7074 [Gene]
• LOC130008843:ATAC-STARR-seq lymphoblastoid active region 7075 [Gene]
• LOC130008844:ATAC-STARR-seq lymphoblastoid active region 7076 [Gene]
• LOC130008823:ATAC-STARR-seq lymphoblastoid silent region 4889 [Gene]
• LOC130008824:ATAC-STARR-seq lymphoblastoid silent region 4890 [Gene]
• LOC130008826:ATAC-STARR-seq lymphoblastoid silent region 4891 [Gene]
• LOC130008839:ATAC-STARR-seq lymphoblastoid silent region 4893 [Gene]
• LOC130008840:ATAC-STARR-seq lymphoblastoid silent region 4894 [Gene]
• LOC130008841:ATAC-STARR-seq lymphoblastoid silent region 4895 [Gene]
• LOC109280164:CRE2 enhancer downstream of TBX5 [Gene]
• LOC109280163:CRE9 enhancer downstream of TBX5 [Gene]
• DDX54:DEAD-box helicase 54 [Gene - OMIM - HGNC]
• IQCD:IQ motif containing D [Gene - HGNC]
• LHX5-AS1:LHX5 antisense RNA 1 [Gene - HGNC]
• LHX5:LIM homeobox 5 [Gene - OMIM - HGNC]
• LOC126861643:MED14-independent group 3 enhancer GRCh37_chr12:114300792-114301991 [Gene]
• LOC129390559:MPRA-validated peak1969 silencer [Gene]
• LOC129390560:MPRA-validated peak1971 silencer [Gene]
• LOC129390561:MPRA-validated peak1972 silencer [Gene]
• LOC129390562:MPRA-validated peak1973 silencer [Gene]
• LOC132090021:Neanderthal introgressed variant-containing enhancer experimental_24601 [Gene]
• LOC132090022:Neanderthal introgressed variant-containing enhancer experimental_24602 [Gene]
• LOC132090023:Neanderthal introgressed variant-containing enhancer experimental_24607 [Gene]
• LOC132090024:Neanderthal introgressed variant-containing enhancer experimental_24609 [Gene]
• LOC132090859:Neanderthal introgressed variant-containing enhancer experimental_24611 [Gene]
• LOC132090025:Neanderthal introgressed variant-containing enhancer experimental_24613 [Gene]
• LOC132090026:Neanderthal introgressed variant-containing enhancer experimental_24616 [Gene]
• LOC132090027:Neanderthal introgressed variant-containing enhancer experimental_24661 [Gene]
• LOC132090028:Neanderthal introgressed variant-containing enhancer experimental_24787 [Gene]
• LOC132090029:Neanderthal introgressed variant-containing enhancer experimental_24844 [Gene]
• LOC132090030:Neanderthal introgressed variant-containing enhancer experimental_24865 [Gene]
• LOC126861642:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:113744904-113746103 [Gene]
• LOC126861644:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:114601036-114602235 [Gene]
• RASAL1:RAS protein activator like 1 [Gene - OMIM - HGNC]
• RITA1:RBPJ interacting and tubulin associated 1 [Gene - OMIM - HGNC]
• RBM19:RNA binding motif protein 19 [Gene - OMIM - HGNC]
• LOC112136112:Sharpr-MPRA regulatory region 11920 [Gene]
• LOC124819404:Sharpr-MPRA regulatory region 2606 [Gene]
• LOC124819405:Sharpr-MPRA regulatory region 468 [Gene]
• LOC124819403:Sharpr-MPRA regulatory region 6569 [Gene]
• TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]
• LOC110121401:VISTA enhancer hs1571 [Gene]
• LOC110121425:VISTA enhancer hs1673 [Gene]
• CFAP73:cilia and flagella associated protein 73 [Gene - HGNC]
• DTX1:deltex E3 ubiquitin ligase 1 [Gene - OMIM - HGNC]
• LINC01234:long intergenic non-protein coding RNA 1234 [Gene - HGNC]
• LINC02459:long intergenic non-protein coding RNA 2459 [Gene - HGNC]
• MIR6762:microRNA 6762 [Gene - HGNC]
• MIR7106:microRNA 7106 [Gene - HGNC]
• PLBD2:phospholipase B domain containing 2 [Gene - OMIM - HGNC]
• SDSL:serine dehydratase like [Gene - OMIM - HGNC]
• SDS:serine dehydratase [Gene - OMIM - HGNC]
• SLC8B1:solute carrier family 8 member B1 [Gene - OMIM - HGNC]
• TPCN1:two pore segment channel 1 [Gene - OMIM - HGNC]
• LOC105369995:uncharacterized LOC105369995 [Gene]

Variant type:

copy number loss

Cytogenetic location:

12q24.13-24.21

Genomic location:

• Chr12: 113077775 - 114372366 (on Assembly GRCh38)
• Chr12: 113515580 - 114810171 (on Assembly GRCh37)
• Chr12: 111999963 - 113294554 (on Assembly NCBI36)

Preferred name:

GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1

HGVS:

• NC_000012.12:g.(?_113077775)_(114372366_?)del
• NC_000012.10:g.(?_111999963)_(113294554_?)del
• NC_000012.11:g.(?_113515580)_(114810171_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv3397221; dbVar: nsv995616

Observations:

1