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rs797044690

From SNPedia

ClinVar
Risk rs797044690(TGGC;TGGC)
Alt rs797044690(TGGC;TGGC)
Reference rs797044690(CCTCAACGT;CCTCAACGT)
Significance Pathogenic
Disease X-linked periventricular heterotopia
Variation info
Gene FLNA
CLNDBN X-linked periventricular heterotopia
Reversed 1
HGVS NC_000023.10:g.153587640_153587648delACGTTGAGGinsGCCA
CLNSRC
CLNACC RCV000176540.1,