Original source

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

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

Chromosome 10:102232043 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981542

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_076_PITX3_602669_0002, 11348

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays