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 19:43511455 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM040420, CM077533

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

19:g.43511455G>A
ENST00000594342.5:c.*50C>T
ENST00000292147.6:c.487C>T
ENSP00000292147.1:p.Arg163Trp
ENST00000598330.1:c.*50C>T
ENST00000600651.5:c.487C>T
ENSP00000469037.1:p.Arg163Trp

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays