15q11.2 Copy Number Variation - CNVs Booklet

15q11.2 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr15:22805313-23094530

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Disorder Information from Orphanet

  1. ORPHA: 261183 Microdeletion syndrome
    OMIM: 615656
    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
TUBGCP5 tubulin gamma complex component 5 114791 ENSG00000275835 Q96RT8
CYFIP1 cytoplasmic FMR1 interacting protein 1 23191 ENSG00000273749 Q7L576
NIPA2 NIPA magnesium transporter 2 81614 ENSG00000140157 Q8N8Q9
NIPA1 NIPA magnesium transporter 1 123606 ENSG00000170113 Q7RTP0