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 4:110621210 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981540

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 23129, 2010_April_001_061_PITX2_601542_0012

HGVS names

This variant has 22 HGVS names - Show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays