Original source

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

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

Chromosome 8:22163458 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM058313

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5085

This variant has 16 HGVS names - click the plus to show

8:g.22163458C>A
ENST00000521315.5:c.347C>A
ENSP00000430410.1:p.Ala116Asp
ENST00000522109.5:c.347C>A
ENSP00000429496.1:p.Ala116Asp
ENST00000520605.5:c.188C>A
ENSP00000430266.1:p.Ala63Asp
ENST00000437090.6:c.347C>A
ENSP00000407931.2:p.Ala116Asp
ENST00000524255.5:c.188C>A
ENSP00000429552.1:p.Ala63Asp
ENST00000522630.2:n.146C>A
ENST00000523296.1:c.188C>A
ENSP00000429619.1:p.Ala63Asp
ENST00000318561.7:c.347C>A
ENSP00000316152.3:p.Ala116Asp

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays