Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 12:114398675 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031376

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_127_TBX5_601620_0009, 10328

HGVS names

This variant has 13 HGVS names - Show

About this variant

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

Variant displays