Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 19:17888397 (forward strand) | View in location tab

Co-located

with COSMIC COSM3783203 (C/T) ; HGMD-PUBLIC CM981847

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10649

This variant has 5 HGVS names - click the plus to show

Variant allele T
19:g.17888397C>T
ENST00000222248.3:c.1593C>T

Variant allele G
19:g.17888397C>G
ENST00000222248.3:c.1593C>G
ENSP00000222248.2:p.Tyr531Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays