rs1057517954

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
(C;C)	7.7	X-linked adrenoleukodystrophy; symptoms and age of onset highly variable
(C;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.p7 38.3/150

Chromosome

X

Position

153725754

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs1057517954
dbSNP (classic)	rs1057517954
ClinGen	rs1057517954
ebi	rs1057517954
HLI	rs1057517954
Exac	rs1057517954
Gnomad	rs1057517954
Varsome	rs1057517954
LitVar	rs1057517954
Map	rs1057517954
PheGenI	rs1057517954
Biobank	rs1057517954
1000 genomes	rs1057517954
hgdp	rs1057517954
ensembl	rs1057517954
geneview	rs1057517954
scholar	rs1057517954
google	rs1057517954
pharmgkb	rs1057517954
gwascentral	rs1057517954
openSNP	rs1057517954
23andMe	rs1057517954
SNPshot	rs1057517954
SNPdbe	rs1057517954
MSV3d	rs1057517954
GWAS Ctlg	rs1057517954

Max Magnitude

7.7

aka c.488G>A (p.Arg163His), c.488G>T (p.Arg163Leu) and c.488G>C (p.Arg163Pro), all of which are reported as pathogenic

ClinVar
Risk	Rs1057517954(A;A)
Alt	Rs1057517954(A;A)
Reference	Rs1057517954(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.152991209G>A
CLNSRC
CLNACC	RCV000414525.1,