rs139616452

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of a Friedreich's ataxia allele
(T;T)	6	Friedreich's ataxia

Reference

GRCh38 38.1/141

Chromosome

9

Position

69072673

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs139616452
dbSNP (classic)	rs139616452
ClinGen	rs139616452
ebi	rs139616452
HLI	rs139616452
Exac	rs139616452
Gnomad	rs139616452
Varsome	rs139616452
LitVar	rs139616452
Map	rs139616452
PheGenI	rs139616452
Biobank	rs139616452
1000 genomes	rs139616452
hgdp	rs139616452
ensembl	rs139616452
geneview	rs139616452
scholar	rs139616452
google	rs139616452
pharmgkb	rs139616452
gwascentral	rs139616452
openSNP	rs139616452
23andMe	rs139616452
SNPshot	rs139616452
SNPdbe	rs139616452
MSV3d	rs139616452
GWAS Ctlg	rs139616452

Max Magnitude

6

rs139616452, also known as c.544 C>T or p.L182F, 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	Rs139616452(T;T)
Alt	Rs139616452(T;T)
Reference	Rs139616452(C;C)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687589C>T
CLNSRC
CLNACC

[PMID 10732799] The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.