Original source

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

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

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

Co-located variants

COSMIC COSM3783203 ; HGMD-PUBLIC CM981847

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10649

HGVS names

This variant has 6 HGVS names - Hide

Variant allele T
19:g.17888397C>T
ENST00000222248.3:c.1593C>T
ENST00000222248.3:c.1593C>T(p.=)

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