Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with COSMIC COSM139975 (C/T) ; HGMD-PUBLIC CM971436

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_121_TBX5_601620_0002, 10321

This variant has 13 HGVS names - click the plus to show

About this variant

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

Variant displays