rs398123113

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725880

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs398123113
dbSNP (classic)	rs398123113
ClinGen	rs398123113
ebi	rs398123113
HLI	rs398123113
Exac	rs398123113
Gnomad	rs398123113
Varsome	rs398123113
LitVar	rs398123113
Map	rs398123113
PheGenI	rs398123113
Biobank	rs398123113
1000 genomes	rs398123113
hgdp	rs398123113
ensembl	rs398123113
geneview	rs398123113
scholar	rs398123113
google	rs398123113
pharmgkb	rs398123113
gwascentral	rs398123113
openSNP	rs398123113
23andMe	rs398123113
SNPshot	rs398123113
SNPdbe	rs398123113
MSV3d	rs398123113
GWAS Ctlg	rs398123113

Max Magnitude

7.7

aka c.614C>A (p.Ala205Glu)

Note that c.614C>T is listed as a variant of uncertain significance in the ALD Mutation Database

ClinVar
Risk	Rs398123113(A;A) rs398123113(T;T)
Alt	Rs398123113(A;A) rs398123113(T;T)
Reference	Rs398123113(C;C)
Significance	Probable-Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991335C>A
CLNSRC	HGMD
CLNACC	RCV000077967.4,