rs148443992

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69072686

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs148443992
dbSNP (classic)	rs148443992
ClinGen	rs148443992
ebi	rs148443992
HLI	rs148443992
Exac	rs148443992
Gnomad	rs148443992
Varsome	rs148443992
LitVar	rs148443992
Map	rs148443992
PheGenI	rs148443992
Biobank	rs148443992
1000 genomes	rs148443992
hgdp	rs148443992
ensembl	rs148443992
geneview	rs148443992
scholar	rs148443992
google	rs148443992
pharmgkb	rs148443992
gwascentral	rs148443992
openSNP	rs148443992
23andMe	rs148443992
SNPshot	rs148443992
SNPdbe	rs148443992
MSV3d	rs148443992
GWAS Ctlg	rs148443992

Max Magnitude

6

rs148443992, also known as c.557 T>G or p.L186R (isof. 1) p.W189G (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	Rs148443992(G;G)
Alt	Rs148443992(G;G)
Reference	Rs148443992(T;T)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71687602T>G
CLNSRC
CLNACC

[PMID 15340363] Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.