Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 8:31090843 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12757

HGVS names

This variant has 7 HGVS names - Hide

8:g.31090843A>T
ENST00000521620.5:n.363A>T
ENST00000298139.5:c.1730A>T
ENSP00000298139.5:p.Lys577Met
LRG_524:g.62582A>T
LRG_524t1:c.1730A>T
LRG_524p1:p.Lys577Met

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays