rs147211454

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;-)	3	carrier of a Friedreich's ataxia allele
(-;-)	6	Friedreich's ataxia
(GCAGACAAGCCAT;GCAGACAAGCCAT)	0	common in clinvar

Make rs147211454(-;GCAGACAAGCCAT)

Reference

GRCh38 38.1/141

Chromosome

9

Position

69053216

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs147211454
dbSNP (classic)	rs147211454
ClinGen	rs147211454
ebi	rs147211454
HLI	rs147211454
Exac	rs147211454
Gnomad	rs147211454
Varsome	rs147211454
LitVar	rs147211454
Map	rs147211454
PheGenI	rs147211454
Biobank	rs147211454
1000 genomes	rs147211454
hgdp	rs147211454
ensembl	rs147211454
geneview	rs147211454
scholar	rs147211454
google	rs147211454
pharmgkb	rs147211454
gwascentral	rs147211454
openSNP	rs147211454
23andMe	rs147211454
SNPshot	rs147211454
SNPdbe	rs147211454
MSV3d	rs147211454
GWAS Ctlg	rs147211454

Max Magnitude

6

rs147211454, also known as c.340_352 del13 or p.A114TfsX15, 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
Alt
Reference	Rs147211454(GCAGACAAGCCAT;GCAGACAAGCCAT)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668132_71668144delGCAGACAAGCCAT
CLNSRC
CLNACC

[PMID 10633132] Prevalence of mitochondrial gene mutations among hearing impaired patients.