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 19:45768373 (forward strand)|View in location tab

Co-located variants

COSMIC COSM126184 ; HGMD-PUBLIC CM071085

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_175875.3:c.472G>A, 2010_April_001_099_SIX5_600963_0001, 9734

HGVS names

This variant has 9 HGVS names - Hide

19:g.45768373C>T
ENST00000622857.1:c.15+457G>A
ENST00000590076.2:n.336+242C>T
ENST00000559756.1:n.1181-459C>T
ENST00000560160.1:c.255G>A
ENSP00000453239.2:p.Ala86Thr
ENST00000560168.1:c.131-261G>A
ENST00000317578.6:c.472G>A
ENSP00000316842.4:p.Ala158Thr

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays