rs143396368

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69072623

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs143396368
dbSNP (classic)	rs143396368
ClinGen	rs143396368
ebi	rs143396368
HLI	rs143396368
Exac	rs143396368
Gnomad	rs143396368
Varsome	rs143396368
LitVar	rs143396368
Map	rs143396368
PheGenI	rs143396368
Biobank	rs143396368
1000 genomes	rs143396368
hgdp	rs143396368
ensembl	rs143396368
geneview	rs143396368
scholar	rs143396368
google	rs143396368
pharmgkb	rs143396368
gwascentral	rs143396368
openSNP	rs143396368
23andMe	rs143396368
SNPshot	rs143396368
SNPdbe	rs143396368
MSV3d	rs143396368
GWAS Ctlg	rs143396368

Max Magnitude

6

rs143396368, also known as c.494 G>C or p.R165P (isof. 1) p.V168L (isof. 2), 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	Rs143396368(C;C)
Alt	Rs143396368(C;C)
Reference	Rs143396368(G;G)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687539G>C
CLNSRC
CLNACC

[PMID 10668723] Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.