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 19:39507099 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM000506

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11447, 2010_April_001_030_DLL3_602768_0003

HGVS names

This variant has 7 HGVS names - Hide

19:g.39507099G>A
ENST00000596614.5:c.470G>A
ENSP00000471688.1:p.Gly157Asp
ENST00000205143.4:c.1154G>A
ENSP00000205143.3:p.Gly385Asp
ENST00000356433.9:c.1154G>A
ENSP00000348810.4:p.Gly385Asp

About this variant

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

Variant displays