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rs180177362

From SNPedia

ClinVar
Risk rs180177362(;)
Alt rs180177362(;)
Reference rs180177362(AAGTGTGGCTCAAGTTCA;AAGTGTGGCTCAAGTTCA)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100589781_100589798del18
CLNSRC ClinVar
CLNACC RCV000050084.1, RCV000058898.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.