Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (T)
Location

Chromosome 19:18783129 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030030

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
19:g.18783129G>A
ENST00000542601.6:c.2053C>T
ENSP00000439156.2:p.Arg685Trp
ENST00000425807.1:c.1993C>T
ENSP00000403792.1:p.Arg665Trp
ENST00000222271.6:c.2152C>T
ENSP00000222271.2:p.Arg718Trp

Variant allele T
19:g.18783129G>T
ENST00000542601.6:c.2053C>A
ENST00000542601.6:c.2053C>A(p.=)
ENST00000425807.1:c.1993C>A
ENST00000425807.1:c.1993C>A(p.=)
ENST00000222271.6:c.2152C>A
ENST00000222271.6:c.2152C>A(p.=)

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays