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rs386833638

From SNPedia

ClinVar
Risk rs386833638(TT;TT)
Alt rs386833638(TT;TT)
Reference rs386833638(CAAGTAACAACAGTGTG;CAAGTAACAACAGTGTG)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557792_40557808del17insAA
CLNSRC ClinVar
CLNACC RCV000049597.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.