Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

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

Co-located variant

HGMD-PUBLIC CM950786

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16769

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
10:g.80285517G>A
ENST00000455001.1:c.98C>T
ENSP00000414961.1:p.Ala33Val
ENST00000372213.7:c.164C>T
ENSP00000361287.3:p.Ala55Val

Variant allele T
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 4 transcripts and is associated with 2 phenotypes.

Variant displays