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

Co-located

with HGMD-PUBLIC CM080543

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13568

This variation has 4 HGVS names - click the plus to show

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

About this variant

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

Variation displays