Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338815(A;A)
Make rs80338815(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627165
GeneARSA
is asnp
is mentioned by
dbSNPrs80338815
ebirs80338815
HLIrs80338815
Exacrs80338815
Varsomers80338815
Maprs80338815
PheGenIrs80338815
hapmaprs80338815
1000 genomesrs80338815
hgdprs80338815
ensemblrs80338815
gopubmedrs80338815
geneviewrs80338815
scholarrs80338815
googlers80338815
pharmgkbrs80338815
gwascentralrs80338815
openSNPrs80338815
23andMers80338815
23andMe allrs80338815
SNP Nexus

SNPshotrs80338815
SNPdbers80338815
MSV3drs80338815
GWAS Ctlgrs80338815
Max Magnitude0
OMIM607574
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338815(A;A)
Alt rs80338815(A;A)
Reference rs80338815(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065593C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003192.3, RCV000003194.3, RCV000020319.4,


[PMID 1670590] Molecular basis of different forms of metachromatic leukodystrophy.


[PMID 7825603OA-icon.png] Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.


[PMID 7866401] Molecular genetics of metachromatic leukodystrophy.


[PMID 8095918] Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.


[PMID 9090526] Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.


[PMID 11456299] Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.