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 5:60904794 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055940

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

5:g.60904794G>A
ENST00000265038.9:c.479C>T
ENSP00000265038.5:p.Ala160Val
ENST00000495985.5:n.252C>T
ENST00000439176.5:c.305C>T
ENSP00000408344.1:p.Ala102Val
ENST00000497892.5:n.522C>T
ENST00000484330.5:n.227-2286C>T
ENST00000381118.7:c.*523C>T
ENST00000462279.5:n.324C>T
LRG_466:g.45285C>T
LRG_466t1:c.479C>T
LRG_466p1:p.Ala160Val

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays