Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 13:110186513 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001845.4:c.1769G>A

HGVS names

This variant has 3 HGVS names - Hide

13:g.110186513C>T
ENST00000375820.8:c.1769G>A
ENSP00000364979.4:p.Gly590Glu

About this variant

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

Variant displays