Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 12:114401863 (forward strand)|View in location tab

Co-located variants

COSMIC COSM139975 ; HGMD-PUBLIC CM971436

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10321, 2010_April_001_121_TBX5_601620_0002

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