Original source

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

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

Chromosome 5:60890964 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950261

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16308

This variant has 8 HGVS names - click the plus to show

5:g.60890964G>T
ENST00000265038.9:c.966C>A
ENSP00000265038.5:p.Tyr322Ter
ENST00000381118.7:c.*1010C>A
ENST00000462279.5:n.2418C>A
LRG_466:g.59115C>A
LRG_466t1:c.966C>A
LRG_466p1:p.Tyr322Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays