rs141935559

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

69035939

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs141935559
dbSNP (classic)	rs141935559
ClinGen	rs141935559
ebi	rs141935559
HLI	rs141935559
Exac	rs141935559
Gnomad	rs141935559
Varsome	rs141935559
LitVar	rs141935559
Map	rs141935559
PheGenI	rs141935559
Biobank	rs141935559
1000 genomes	rs141935559
hgdp	rs141935559
ensembl	rs141935559
geneview	rs141935559
scholar	rs141935559
google	rs141935559
pharmgkb	rs141935559
gwascentral	rs141935559
openSNP	rs141935559
23andMe	rs141935559
SNPshot	rs141935559
SNPdbe	rs141935559
MSV3d	rs141935559
GWAS Ctlg	rs141935559

Max Magnitude

6

rs141935559, also known as c.157 insC or p.R53PfsX40, 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	Rs141935559(C;C)
Alt	Rs141935559(C;C)
Reference	Rs141935559(;)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71650855dupC
CLNSRC
CLNACC

[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.