Original source

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

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

Chromosome 10:80274535 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950789

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16770

HGVS names

This variant has 5 HGVS names - Hide

10:g.80274535G>A
ENST00000480845.1:n.302C>T
ENST00000485270.5:n.582C>T
ENST00000372213.7:c.1070C>T
ENSP00000361287.3:p.Pro357Leu

About this variant

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

Variant displays