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 3:87262160 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM052907

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_149_POU1F1_173110_0013, 4699

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays