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 4:154585991 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920272

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1933

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

4:g.154585991T>A
ENST00000302053.7:c.1438A>T
ENSP00000306361.3:p.Lys480Ter
ENST00000403106.7:c.1438A>T
ENSP00000385981.3:p.Lys480Ter
ENST00000622532.1:c.644-281A>T
LRG_557:g.9755A>T
LRG_557t2:c.1438A>T
LRG_557p2:p.Lys480Ter
LRG_557t1:c.1438A>T
LRG_557p1:p.Lys480Ter

About this variant

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

Variant displays