ClinVar

GRCh38/hg38 1q32.3(chr1:212337801-213362035)

Genes:

• LOC129932467:ATAC-STARR-seq lymphoblastoid active region 2504 [Gene]
• LOC129932468:ATAC-STARR-seq lymphoblastoid active region 2506 [Gene]
• LOC129932469:ATAC-STARR-seq lymphoblastoid active region 2507 [Gene]
• LOC129932470:ATAC-STARR-seq lymphoblastoid active region 2508 [Gene]
• LOC129932471:ATAC-STARR-seq lymphoblastoid active region 2509 [Gene]
• LOC129932475:ATAC-STARR-seq lymphoblastoid active region 2512 [Gene]
• LOC129932478:ATAC-STARR-seq lymphoblastoid active region 2513 [Gene]
• LOC129932479:ATAC-STARR-seq lymphoblastoid active region 2514 [Gene]
• LOC129932480:ATAC-STARR-seq lymphoblastoid active region 2515 [Gene]
• LOC129932483:ATAC-STARR-seq lymphoblastoid active region 2517 [Gene]
• LOC129932484:ATAC-STARR-seq lymphoblastoid active region 2519 [Gene]
• LOC129932487:ATAC-STARR-seq lymphoblastoid active region 2520 [Gene]
• LOC129932488:ATAC-STARR-seq lymphoblastoid active region 2521 [Gene]
• LOC129932489:ATAC-STARR-seq lymphoblastoid active region 2522 [Gene]
• LOC129932490:ATAC-STARR-seq lymphoblastoid active region 2524 [Gene]
• LOC129932491:ATAC-STARR-seq lymphoblastoid active region 2525 [Gene]
• LOC129932492:ATAC-STARR-seq lymphoblastoid active region 2526 [Gene]
• LOC129932494:ATAC-STARR-seq lymphoblastoid active region 2528 [Gene]
• LOC129932495:ATAC-STARR-seq lymphoblastoid active region 2529 [Gene]
• LOC129932465:ATAC-STARR-seq lymphoblastoid silent region 1794 [Gene]
• LOC129932466:ATAC-STARR-seq lymphoblastoid silent region 1795 [Gene]
• LOC129932472:ATAC-STARR-seq lymphoblastoid silent region 1797 [Gene]
• LOC129932473:ATAC-STARR-seq lymphoblastoid silent region 1800 [Gene]
• LOC129932474:ATAC-STARR-seq lymphoblastoid silent region 1801 [Gene]
• LOC129932476:ATAC-STARR-seq lymphoblastoid silent region 1802 [Gene]
• LOC129932477:ATAC-STARR-seq lymphoblastoid silent region 1803 [Gene]
• LOC129932481:ATAC-STARR-seq lymphoblastoid silent region 1804 [Gene]
• LOC129932482:ATAC-STARR-seq lymphoblastoid silent region 1805 [Gene]
• LOC129932485:ATAC-STARR-seq lymphoblastoid silent region 1806 [Gene]
• LOC129932486:ATAC-STARR-seq lymphoblastoid silent region 1807 [Gene]
• LOC129932493:ATAC-STARR-seq lymphoblastoid silent region 1809 [Gene]
• LOC126806003:BRD4-independent group 4 enhancer GRCh37_chr1:212810785-212811984 [Gene]
• LOC115804245:CRISPRi-validated cis-regulatory element chr1.11595 [Gene]
• LOC115804246:CRISPRi-validated cis-regulatory element chr1.11646 [Gene]
• FLVCR1:FLVCR choline and heme transporter 1 [Gene - OMIM - HGNC]
• FLVCR1-DT:FLVCR1 divergent transcript [Gene - OMIM - HGNC]
• LOC126806004:MED14-independent group 3 enhancer GRCh37_chr1:212856142-212857341 [Gene]
• LOC129388743:MPRA-validated peak686 silencer [Gene]
• LOC129388744:MPRA-validated peak687 silencer [Gene]
• LOC129388745:MPRA-validated peak688 silencer [Gene]
• LOC129388746:MPRA-validated peak689 silencer [Gene]
• NSL1:NSL1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
• LOC132088640:Neanderthal introgressed variant-containing enhancer experimental_3589 [Gene]
• LOC132088641:Neanderthal introgressed variant-containing enhancer experimental_3606 [Gene]
• LOC132088644:Neanderthal introgressed variant-containing enhancer experimental_3744 [Gene]
• LOC112577538:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:212769225-212770424 [Gene]
• LOC122149496:Sharpr-MPRA regulatory region 1202 [Gene]
• LOC122149495:Sharpr-MPRA regulatory region 14805 [Gene]
• LOC122149497:Sharpr-MPRA regulatory region 1741 [Gene]
• LOC112577542:Sharpr-MPRA regulatory region 306 [Gene]
• LOC122149494:Sharpr-MPRA regulatory region 5085 [Gene]
• TATDN3:TatD DNase domain containing 3 [Gene - HGNC]
• LOC110121057:VISTA enhancer hs1324 [Gene]
• LOC110121257:VISTA enhancer hs2089 [Gene]
• ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]
• ANGEL2:angel homolog 2 [Gene - OMIM - HGNC]
• BATF3:basic leucine zipper ATF-like transcription factor 3 [Gene - OMIM - HGNC]
• GARIN4:golgi associated RAB2 interactor family member 4 [Gene - OMIM - HGNC]
• LINC01740:long intergenic non-protein coding RNA 1740 [Gene - HGNC]
• LINC02771:long intergenic non-protein coding RNA 2771 [Gene - HGNC]
• LINC02773:long intergenic non-protein coding RNA 2773 [Gene - HGNC]
• NENF:neudesin neurotrophic factor [Gene - OMIM - HGNC]
• PPP2R5A:protein phosphatase 2 regulatory subunit B'alpha [Gene - OMIM - HGNC]
• PACC1:proton activated chloride channel 1 [Gene - OMIM - HGNC]
• RPS6KC1:ribosomal protein S6 kinase C1 [Gene - OMIM - HGNC]
• SNORA16B:small nucleolar RNA, H/ACA box 16B [Gene - HGNC]
• SPATA45:spermatogenesis associated 45 [Gene - HGNC]
• VASH2:vasohibin 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q32.3

Genomic location:

Chr1: 212337801 - 213362035 (on Assembly GRCh38)

Preferred name:

GRCh38/hg38 1q32.3(chr1:212337801-213362035)

HGVS:

NC_000001.11:g.(?_212337801)_(213362035_?)del

This HGVS expression did not pass validation

Observations:

1