rs74315467

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a metachromatic leukodystrophy mutation

Make rs74315467(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50626877

Gene

ARSA

is a	snp
is	mentioned by
dbSNP	rs74315467
dbSNP (classic)	rs74315467
ClinGen	rs74315467
ebi	rs74315467
HLI	rs74315467
Exac	rs74315467
Gnomad	rs74315467
Varsome	rs74315467
LitVar	rs74315467
Map	rs74315467
PheGenI	rs74315467
Biobank	rs74315467
1000 genomes	rs74315467
hgdp	rs74315467
ensembl	rs74315467
geneview	rs74315467
scholar	rs74315467
google	rs74315467
pharmgkb	rs74315467
gwascentral	rs74315467
openSNP	rs74315467
23andMe	rs74315467
SNPshot	rs74315467
SNPdbe	rs74315467
MSV3d	rs74315467
GWAS Ctlg	rs74315467

Max Magnitude

3

aka c.641C>T (p.Ala214Val)

23andMe name: i5004790

OMIM	607574
Desc
Variant	0022
Related	also

ClinVar
Risk	rs74315467(A;A) rs74315467(T;T)
Alt	rs74315467(A;A) rs74315467(T;T)
Reference	Rs74315467(C;C)
Significance	Pathogenic
Disease	Metachromatic leukodystrophy
Variation	info
Gene	ARSA
CLNDBN	Metachromatic leukodystrophy
Reversed	1
HGVS	NC_000022.10:g.51065305G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003216.2,

[PMID 7906588] Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.