ClinVar

GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1

Genes:

• MYG1:MYG1 exonuclease [Gene - OMIM - HGNC]
• SPRYD3:SPRY domain containing 3 [Gene - HGNC]
• SP1:Sp1 transcription factor [Gene - OMIM - HGNC]
• SP7:Sp7 transcription factor [Gene - OMIM - HGNC]
• AAAS:aladin WD repeat nucleoporin [Gene - OMIM - HGNC]
• AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]
• CSAD:cysteine sulfinic acid decarboxylase [Gene - OMIM - HGNC]
• EIF4B:eukaryotic translation initiation factor 4B [Gene - OMIM - HGNC]
• ESPL1:extra spindle pole bodies like 1, separase [Gene - OMIM - HGNC]
• IGFBP6:insulin like growth factor binding protein 6 [Gene - OMIM - HGNC]
• ITGB7:integrin subunit beta 7 [Gene - OMIM - HGNC]
• MFSD5:major facilitator superfamily domain containing 5 [Gene - HGNC]
• PCBP2:poly(rC) binding protein 2 [Gene - OMIM - HGNC]
• PFDN5:prefoldin subunit 5 [Gene - OMIM - HGNC]
• PRR13:proline rich 13 [Gene - OMIM - HGNC]
• RARG:retinoic acid receptor gamma [Gene - OMIM - HGNC]
• SOAT2:sterol O-acyltransferase 2 [Gene - OMIM - HGNC]
• TNS2:tensin 2 [Gene - OMIM - HGNC]
• ZNF740:zinc finger protein 740 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

12q13.13

Genomic location:

Chr12: 53372321 - 53864490 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1

HGVS:

NC_000012.11:g.(?_53372321)_(53864490_?)del

This HGVS expression did not pass validation