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 10:80274639 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950788

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16768

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

10:g.80274639A>C
ENST00000480845.1:n.198T>G
ENST00000372213.7:c.966T>G
ENSP00000361287.3:p.Ile322Met
ENST00000485270.5:n.478T>G

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays