Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 10:80275054 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950787

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16771

HGVS names

This variant has 5 HGVS names - Hide

10:g.80275054A>G
ENST00000480845.1:n.146T>C
ENST00000485270.5:n.426T>C
ENST00000372213.7:c.914T>C
ENSP00000361287.3:p.Leu305Pro

About this variant

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

Variant displays