15q13.2-q13.3 Copy Number Variation - CNVs Booklet

15q13.2-q13.3 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr15:30500000-32500000

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Disorder Information from Orphanet

  1. ORPHA: 199318 Microdeletion syndrome
    OMIM: 612001
    Disease description: No description available.
    World-wide prevalence: Unknown
    Very frequent (99–80%) phenotypic features: No phenotypic features available.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion 89832 ENSG00000166664 Q494W8
GOLGA8R golgin A8 family member R 101059918 ENSG00000186399 I6L899
GOLGA8Q golgin A8 family member Q 727909 ENSG00000178115 H3BV12
GOLGA8H golgin A8 family member H 728498 ENSG00000261794 P0CJ92
ARHGAP11B Rho GTPase activating protein 11B 89839 ENSG00000285077 Q3KRB8
FAN1 FANCD2 and FANCI associated nuclease 1 22909 ENSG00000198690 Q9Y2M0
MTMR10 myotubularin related protein 10 54893 ENSG00000166912 Q9NXD2
TRPM1 transient receptor potential cation channel subfamily M member 1 4308 ENSG00000134160 Q7Z4N2
KLF13 KLF transcription factor 13 51621 ENSG00000169926 Q9Y2Y9
OTUD7A OTU deubiquitinase 7A 161725 ENSG00000169918 Q8TE49
CHRNA7 cholinergic receptor nicotinic alpha 7 subunit 1139 ENSG00000175344 P36544