ClinVar

GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1

Genes:

• ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
• BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
• BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
• CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
• DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
• FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
• GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
• LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
• MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
• NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
• VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
• ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
• BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
• CLDN3:claudin 3 [Gene - OMIM - HGNC]
• CLDN4:claudin 4 [Gene - OMIM - HGNC]
• ELN:elastin [Gene - OMIM - HGNC]
• EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
• FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
• GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
• LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
• METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
• MIR590:microRNA 590 [Gene - OMIM - HGNC]
• RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
• STX1A:syntaxin 1A [Gene - OMIM - HGNC]
• TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
• TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
• TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7q11.23

Genomic location:

Chr7: 72718123 - 74141784 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1

HGVS:

NC_000007.13:g.(?_72718123)_(74141784_?)del

This HGVS expression did not pass validation