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 12:114401830 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991163

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10323, 2010_April_001_123_TBX5_601620_0004

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