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rs80356560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356560(C;G)
Make rs80356560(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101346595
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs80356560
ebirs80356560
HLIrs80356560
Exacrs80356560
Varsomers80356560
Maprs80356560
PheGenIrs80356560
hapmaprs80356560
1000 genomesrs80356560
hgdprs80356560
ensemblrs80356560
gopubmedrs80356560
geneviewrs80356560
scholarrs80356560
googlers80356560
pharmgkbrs80356560
gwascentralrs80356560
openSNPrs80356560
23andMers80356560
23andMe allrs80356560
SNP Nexus

SNPshotrs80356560
SNPdbers80356560
MSV3drs80356560
GWAS Ctlgrs80356560
Max Magnitude0
OMIM300356
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356560(G;G)
Alt rs80356560(G;G)
Reference rs80356560(C;C)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100601583G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012073.12,


[PMID 10878669] A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.