Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM981846

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10648

This variant has 3 HGVS names - click the plus to show

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