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 3:87260082 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021317

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 4698, 2010_April_001_148_POU1F1_173110_0012

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 2 regulatory features and is associated with 2 phenotypes.

Variant displays