Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 19:39504130 (forward strand) | View in location tab

Co-located

with COSMIC COSM189090 (C/T) ; HGMD-PUBLIC CM031159

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_031_DLL3_602768_0006, 11450

This variant has 7 HGVS names - click the plus to show

19:g.39504130C>T
ENST00000596614.5:c.410-2909C>T
ENST00000205143.4:c.712C>T
ENSP00000205143.3:p.Arg238Ter
ENST00000356433.9:c.712C>T
ENSP00000348810.4:p.Arg238Ter
ENST00000600437.1:n.792C>T

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays