Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 10:93797277 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020460

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

10:g.93797277A>C
ENST00000630047.2:c.1004A>C
ENSP00000485917.1:p.Glu335Ala
ENST00000627420.2:c.*857A>C
ENST00000629035.2:c.1076A>C
ENSP00000486908.1:p.Glu359Ala
ENST00000626307.1:n.5063A>C
ENST00000371413.4:c.839-472A>C
ENST00000371418.8:c.1148A>C
ENSP00000360472.4:p.Glu383Ala

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays