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rs28940574

From SNPedia

Canavan disease
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Canavan disease (predicted)
(A;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position3499060
GeneASPA, SPATA22
is asnp
is mentioned by
dbSNPrs28940574
dbSNP (classic)rs28940574
ClinGenrs28940574
ebirs28940574
HLIrs28940574
Exacrs28940574
Gnomadrs28940574
Varsomers28940574
LitVarrs28940574
Maprs28940574
PheGenIrs28940574
Biobankrs28940574
1000 genomesrs28940574
hgdprs28940574
ensemblrs28940574
geneviewrs28940574
scholarrs28940574
googlers28940574
pharmgkbrs28940574
gwascentralrs28940574
openSNPrs28940574
23andMers28940574
SNPshotrs28940574
SNPdbers28940574
MSV3drs28940574
GWAS Ctlgrs28940574
Max Magnitude8

rs28940574, also known as c.914C>A, A305E or p.Ala305Glu, is a SNP in the ASPA gene.

rs28940574 is one of several known causal SNPs of Canavan disease. OMIM reports that in non-Jewish patients of European origin, the A305E mutation accounts for 50% of Canavan disease-associated alleles.

FTDNA & MyHeritage name: VG17S16802

OMIM608034
DescCanavan disease
Variant0003
Relatedalso


ClinVar
Risk Rs28940574(A;A)
Alt Rs28940574(A;A)
Reference Rs28940574(C;C)
Significance Pathogenic
Disease Spongy degeneration of central nervous system not provided
Variation info
Gene SPATA22 ASPA
CLNDBN Spongy degeneration of central nervous system not provided
Reversed 0
HGVS NC_000017.10:g.3402354C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002725.3, RCV000489986.1,