Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 9:69065020 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM993648

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB FRDA_31

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts and is mentioned in 1 citation.

Variant displays