Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 12:114385522 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991164

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10324, 2010_April_001_124_TBX5_601620_0005, NM_000192.3:c.709C>T

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays