Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 9:69065013 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960661

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 14155, FRDA_28, 2010_April_001_025_FXN_606829_0004

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays