ClinVar

GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)

Genes:

• EPHA7:EPH receptor A7 [Gene - OMIM - HGNC]
• FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]
• GPR63:G protein-coupled receptor 63 [Gene - OMIM - HGNC]
• MMS22L:MMS22 like, DNA repair protein [Gene - OMIM - HGNC]
• NDUFAF4:NADH:ubiquinone oxidoreductase complex assembly factor 4 [Gene - OMIM - HGNC]
• PNISR:PNN interacting serine and arginine rich protein [Gene - OMIM - HGNC]
• POU3F2:POU class 3 homeobox 2 [Gene - OMIM - HGNC]
• PRDM13:PR/SET domain 13 [Gene - OMIM - HGNC]
• SIM1:SIM bHLH transcription factor 1 [Gene - OMIM - HGNC]
• UFL1:UFM1 specific ligase 1 [Gene - OMIM - HGNC]
• ASCC3:activating signal cointegrator 1 complex subunit 3 [Gene - OMIM - HGNC]
• COQ3:coenzyme Q3, methyltransferase [Gene - OMIM - HGNC]
• CCNC:cyclin C [Gene - OMIM - HGNC]
• FAXC:failed axon connections homolog, metaxin like GST domain containing [Gene - HGNC]
• FHL5:four and a half LIM domains 5 [Gene - OMIM - HGNC]
• FUT9:fucosyltransferase 9 [Gene - OMIM - HGNC]
• GRIK2:glutamate ionotropic receptor kainate type subunit 2 [Gene - OMIM - HGNC]
• KLHL32:kelch like family member 32 [Gene - HGNC]
• MANEA:mannosidase endo-alpha [Gene - OMIM - HGNC]
• MCHR2:melanin concentrating hormone receptor 2 [Gene - OMIM - HGNC]
• TSTD3:thiosulfate sulfurtransferase like domain containing 3 [Gene - HGNC]
• USP45:ubiquitin specific peptidase 45 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6q15-16.3

Genomic location:

Chr6: 92576950 - 104658245 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)

HGVS:

NC_000006.11:g.(?_92576950)_(104658245_?)del

This HGVS expression did not pass validation

Observations:

1