Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045369

From SNPedia

ClinVar
Risk rs797045369(AGTACAGG;AGTACAGG)
Alt rs797045369(AGTACAGG;AGTACAGG)
Reference rs797045369(TTTGA;TTTGA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77286913_77286917delTTTGAinsAGTACAGG
CLNSRC
CLNACC RCV000193069.1,