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

rs730880031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Spinal muscular atrophy, Jokela type
Make rs730880031(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position23767438
GeneCHCHD10
is asnp
is mentioned by
dbSNPrs730880031
ebirs730880031
HLIrs730880031
Exacrs730880031
Varsomers730880031
Maprs730880031
PheGenIrs730880031
hapmaprs730880031
1000 genomesrs730880031
hgdprs730880031
ensemblrs730880031
gopubmedrs730880031
geneviewrs730880031
scholarrs730880031
googlers730880031
pharmgkbrs730880031
gwascentralrs730880031
openSNPrs730880031
23andMers730880031
23andMe allrs730880031
SNP Nexus

SNPshotrs730880031
SNPdbers730880031
MSV3drs730880031
GWAS Ctlgrs730880031
Max Magnitude6

rs730880031, also known as c.197G>T, p.Gly66Val and G66V, is a rare mutation in the CHCHD10 gene on chromosome 22.

As an autosomal dominant, one copy of the rs730880031(T) allele is reported to be sufficient to lead to the Jokela type of spinal muscular atrophy, which is also known as Late-onset spinal motor neuronopathy (LOSMoN).

See also OMIM 615903.0003


ClinVar
Risk rs730880031(T;T)
Alt rs730880031(T;T)
Reference rs730880031(G;G)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene CHCHD10
CLNDBN Spinal muscular atrophy, jokela type
Reversed 1
HGVS NC_000022.10:g.24109625C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157070.3,