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 10:80275177 (forward strand) | View in location tab

Co-located

with COSMIC COSM124340 (C/T) ; HGMD-PUBLIC CM970910

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16774

This variant has 5 HGVS names - click the plus to show

10:g.80275177C>T
ENST00000480845.1:n.23G>A
ENST00000372213.7:c.791G>A
ENSP00000361287.3:p.Arg264His
ENST00000485270.5:n.303G>A

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays