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

rs138446138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Friedreich's ataxia
(-;GTCA) 3 carrier of a Friedreich's ataxia allele
(GTCA;GTCA) 0 common in clinvar
Make rs138446138(GTCA;TTG)
Make rs138446138(TTG;TTG)
ReferenceGRCh38 38.1/141
Chromosome9
Position69046421
GeneFXN
is asnp
is mentioned by
dbSNPrs138446138
ebirs138446138
HLIrs138446138
Exacrs138446138
Varsomers138446138
Maprs138446138
PheGenIrs138446138
hapmaprs138446138
1000 genomesrs138446138
hgdprs138446138
ensemblrs138446138
gopubmedrs138446138
geneviewrs138446138
scholarrs138446138
googlers138446138
pharmgkbrs138446138
gwascentralrs138446138
openSNPrs138446138
23andMers138446138
23andMe allrs138446138
SNP Nexus

SNPshotrs138446138
SNPdbers138446138
MSV3drs138446138
GWAS Ctlgrs138446138
Max Magnitude6
rs138446138, also known as c.202_205 delGTCAinsTTG or p.V68LfsX8, is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk rs138446138(TTG;TTG)
Alt rs138446138(TTG;TTG)
Reference rs138446138(GTCA;GTCA)
Significance Pathogenic
Disease Friedreich ataxia 1
Variation info
Gene FXN
CLNDBN Friedreich ataxia 1
Reversed 0
HGVS NC_000009.11:g.71661337_71661340delGTCAinsTTG
CLNSRC
CLNACC


[PMID 10633132OA-icon.png] Prevalence of mitochondrial gene mutations among hearing impaired patients.