rs398123112

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

153725764

Gene	ABCD1, BCAP31

is a	snp
is	mentioned by
dbSNP	rs398123112
dbSNP (classic)	rs398123112
ClinGen	rs398123112
ebi	rs398123112
HLI	rs398123112
Exac	rs398123112
Gnomad	rs398123112
Varsome	rs398123112
LitVar	rs398123112
Map	rs398123112
PheGenI	rs398123112
Biobank	rs398123112
1000 genomes	rs398123112
hgdp	rs398123112
ensembl	rs398123112
geneview	rs398123112
scholar	rs398123112
google	rs398123112
pharmgkb	rs398123112
gwascentral	rs398123112
openSNP	rs398123112
23andMe	rs398123112
SNPshot	rs398123112
SNPdbe	rs398123112
MSV3d	rs398123112
GWAS Ctlg	rs398123112

Max Magnitude

7.7

c.498_520del23 (p.Val167Leufs)

ClinVar
Risk	Rs398123112(-;-)
Alt	Rs398123112(-;-)
Reference	Rs398123112(TCTGGTGGCCCACGCCTACCGCC;TCTGGTGGCCCACGCCTACCGCC)
Significance	Pathogenic
Disease	Adrenoleukodystrophy
Variation	info
Gene	BCAP31 ABCD1
CLNDBN	Adrenoleukodystrophy
Reversed	0
HGVS	NC_000023.10:g.152991219_152991241del23
CLNSRC	ClinVar
CLNACC	RCV000077966.4,