Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 20:46726312 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM080547

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13567

HGVS names

This variant has 3 HGVS names - Hide

20:g.46726312G>T
ENST00000359271.3:c.1276G>T
ENSP00000352216.2:p.Gly426Trp

About this variant

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

Variant displays