Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 19:17877823 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981846

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10648

HGVS names

This variant has 3 HGVS names - Hide

19:g.17877823C>G
ENST00000222248.3:c.799C>G
ENSP00000222248.2:p.Gln267Glu

About this variant

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

Variant displays