rs398123111

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4.4	Possible Ancestry miscall; otherwise, Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible
(T;T)	7.7	Possible Ancestry miscall; otherwise, X-linked adrenoleukodystrophy; symptoms and age of onset highly variable

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725672

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs398123111
dbSNP (classic)	rs398123111
ClinGen	rs398123111
ebi	rs398123111
HLI	rs398123111
Exac	rs398123111
Gnomad	rs398123111
Varsome	rs398123111
LitVar	rs398123111
Map	rs398123111
PheGenI	rs398123111
Biobank	rs398123111
1000 genomes	rs398123111
hgdp	rs398123111
ensembl	rs398123111
geneview	rs398123111
scholar	rs398123111
google	rs398123111
pharmgkb	rs398123111
gwascentral	rs398123111
openSNP	rs398123111
23andMe	rs398123111
SNPshot	rs398123111
SNPdbe	rs398123111
MSV3d	rs398123111
GWAS Ctlg	rs398123111

Max Magnitude

7.7

aka c.406C>T (p.Gln136Ter)

ClinVar
Risk	Rs398123111(T;T)
Alt	Rs398123111(T;T)
Reference	Rs398123111(C;C)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991127C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000077964.4,