Original source

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

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

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


with HGMD-PUBLIC CM970534

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 14156, FRDA_25, 2010_April_001_026_FXN_606829_0005

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