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 10:80285517 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950786

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16769

This variant has 5 HGVS names - click the plus to show

10:g.80285517G>T
ENST00000455001.1:c.98C>A
ENSP00000414961.1:p.Ala33Asp
ENST00000372213.7:c.164C>A
ENSP00000361287.3:p.Ala55Asp

About this variant

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

Variant displays