Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 3:57198214 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1424823 ; HGMD-PUBLIC CM010056

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10619, 2010_April_001_119_HESX1_601802_0003

HGVS names

This variant has 5 HGVS names - Hide

3:g.57198214T>C
ENST00000473921.2:c.439A>G
ENSP00000418918.1:p.Thr147Ala
ENST00000295934.7:c.541A>G
ENSP00000295934.3:p.Thr181Ala

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays