rs398123110

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725612

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs398123110
dbSNP (classic)	rs398123110
ClinGen	rs398123110
ebi	rs398123110
HLI	rs398123110
Exac	rs398123110
Gnomad	rs398123110
Varsome	rs398123110
LitVar	rs398123110
Map	rs398123110
PheGenI	rs398123110
Biobank	rs398123110
1000 genomes	rs398123110
hgdp	rs398123110
ensembl	rs398123110
geneview	rs398123110
scholar	rs398123110
google	rs398123110
pharmgkb	rs398123110
gwascentral	rs398123110
openSNP	rs398123110
23andMe	rs398123110
SNPshot	rs398123110
SNPdbe	rs398123110
MSV3d	rs398123110
GWAS Ctlg	rs398123110

Max Magnitude

7.7

aka c.346G>A (p.Gly116Arg or G116R)

ClinVar
Risk	Rs398123110(A;A)
Alt	Rs398123110(A;A)
Reference	Rs398123110(G;G)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991067G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000077963.4,