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 12:114385521 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM109115, CM971438

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB 10322, 2010_April_001_122_TBX5_601620_0003

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays