Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 4:154585795 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940775

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1935

This variation has 11 HGVS names - click the plus to show

4:g.154585795T>A
ENST00000302053.6:c.1634A>T
ENSP00000306361.3:p.Glu545Val
ENST00000403106.6:c.1634A>T
ENSP00000385981.3:p.Glu545Val
ENST00000622532.1:c.644-85A>T
LRG_557:g.9951A>T
LRG_557t1:c.1634A>T
LRG_557p1:p.Glu545Val
LRG_557t2:c.1634A>T
LRG_557p2:p.Glu545Val

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variation displays