Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 19:39507456 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031160

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11452, 2010_April_001_032_DLL3_602768_0008

HGVS names

This variant has 5 HGVS names - Hide

19:g.39507456G>A
ENST00000205143.4:c.1511G>A
ENSP00000205143.3:p.Gly504Asp
ENST00000356433.9:c.1511G>A
ENSP00000348810.4:p.Gly504Asp

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays