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 20:46725546 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061197

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_070_SLC2A10_606145_0001, 13563

This variant has 3 HGVS names - click the plus to show

20:g.46725546G>A
ENST00000359271.3:c.510G>A
ENSP00000352216.2:p.Trp170Ter

About this variant

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

Variant displays