Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome X:19355393 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023113

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 7529, 2010_April_001_306_PDHA1_300502_0023

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays