Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM961112

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_054_PITX2_601542_0001, 10226

HGVS names

This variant has 22 HGVS names - Show

About this variant

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

Variant displays