Original source

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

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

Chromosome 4:54274851 (forward strand) | View in location tab

Co-located

with COSMIC COSM133645 (A/G) ; HGMD-PUBLIC CM066164

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4750

This variant has 10 HGVS names - click the plus to show

4:g.54274851A>G
ENST00000509092.5:n.1482A>G
ENST00000507166.5:c.1018-74A>G
ENST00000257290.9:c.1664A>G
ENSP00000257290.5:p.Tyr555Cys
ENST00000509490.5:c.1664A>G
ENSP00000424218.1:p.Tyr555Cys
LRG_309:g.50755A>G
LRG_309t1:c.1664A>G
LRG_309p1:p.Tyr555Cys

About this variant

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

Variant displays