Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 4:110621255 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961112

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_054_PITX2_601542_0001, 10226

This variant has 22 HGVS names - click the plus to show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays