Original source

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

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

Chromosome 19:17872596 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981845

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10650

HGVS names

This variant has 3 HGVS names - Hide

19:g.17872596G>C
ENST00000222248.3:c.277G>C
ENSP00000222248.2:p.Gly93Arg

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays