Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 4:54278380 (forward strand) | View in location tab

Co-located

with COSMIC COSM743 (C/T) ; HGMD-PUBLIC CM035679

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4748

This variant has 12 HGVS names - click the plus to show

4:g.54278380C>T
ENST00000507536.1:n.447C>T
ENST00000509092.5:n.1839C>T
ENST00000507166.5:c.1301C>T
ENSP00000423325.1:p.Thr434Ile
ENST00000257290.9:c.2021C>T
ENSP00000257290.5:p.Thr674Ile
ENST00000509490.5:c.2021C>T
ENSP00000424218.1:p.Thr674Ile
LRG_309:g.54284C>T
LRG_309t1:c.2021C>T
LRG_309p1:p.Thr674Ile

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays