Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 20:46725430 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5037414 ; HGMD-PUBLIC CM080543

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13568

HGVS names

This variant has 4 HGVS names - Hide

20:g.46725430C>T
ENST00000611837.1:n.546C>T
ENST00000359271.3:c.394C>T
ENSP00000352216.2:p.Arg132Trp

About this variant

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

Variant displays