rs398123109

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725297

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs398123109
dbSNP (classic)	rs398123109
ClinGen	rs398123109
ebi	rs398123109
HLI	rs398123109
Exac	rs398123109
Gnomad	rs398123109
Varsome	rs398123109
LitVar	rs398123109
Map	rs398123109
PheGenI	rs398123109
Biobank	rs398123109
1000 genomes	rs398123109
hgdp	rs398123109
ensembl	rs398123109
geneview	rs398123109
scholar	rs398123109
google	rs398123109
pharmgkb	rs398123109
gwascentral	rs398123109
openSNP	rs398123109
23andMe	rs398123109
SNPshot	rs398123109
SNPdbe	rs398123109
MSV3d	rs398123109
GWAS Ctlg	rs398123109

Max Magnitude

7.7

aka c.31_46del16 (p.Arg11Serfs)

Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD)

ClinVar
Risk	Rs398123109(-;-)
Alt	Rs398123109(-;-)
Reference	Rs398123109(CGGGGGAACACGCTGA;CGGGGGAACACGCTGA)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152990752_152990767del16
CLNSRC	ClinVar
CLNACC	RCV000077962.4,