Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/C/T|Ancestral: G|Ambiguity code: B
Location

Chromosome 9:69064942 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970534

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14156, 2010_April_001_026_FXN_606829_0005, FRDA_25

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays