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rs80356543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356543(A;G)
Make rs80356543(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989165
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs80356543
ebirs80356543
HLIrs80356543
Exacrs80356543
Varsomers80356543
Maprs80356543
PheGenIrs80356543
hapmaprs80356543
1000 genomesrs80356543
hgdprs80356543
ensemblrs80356543
gopubmedrs80356543
geneviewrs80356543
scholarrs80356543
googlers80356543
pharmgkbrs80356543
gwascentralrs80356543
openSNPrs80356543
23andMers80356543
23andMe allrs80356543
SNP Nexus

SNPshotrs80356543
SNPdbers80356543
MSV3drs80356543
GWAS Ctlgrs80356543
Max Magnitude0
OMIM606075
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80356543(C,G;C,G)
Alt rs80356543(C,G;C,G)
Reference rs80356543(A;A)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Sensory ataxic neuropathy
Variation info
Gene MRPL43 C10orf2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed 0
HGVS NC_000010.10:g.102748922A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004888.5, RCV000020867.1,


[PMID 15668446] Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.