Original source

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

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

Chromosome 3:57199842 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032940

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_120_HESX1_601802_0005, 10621

HGVS names

This variant has 7 HGVS names - Hide

3:g.57199842A>G
ENST00000473921.2:c.77T>C
ENSP00000418918.1:p.Ile26Thr
ENST00000295934.7:c.77T>C
ENSP00000295934.3:p.Ile26Thr
ENST00000495160.2:c.77T>C
ENSP00000419615.2:p.Ile26Thr

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays