Original source

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

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

Chromosome 1:169518453 (forward strand) | View in location tab

Co-located

with COSMIC COSM207756 (G/A) ; HGMD-PUBLIC CM030037

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17295

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

1:g.169518453G>A
ENST00000367796.3:c.6319C>T
ENSP00000356770.3:p.Arg2107Cys
ENST00000367797.7:c.6304C>T
ENSP00000356771.3:p.Arg2102Cys

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays