This variation has been flagged

Variation has more than 3 different alleles

Original source

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

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

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

Co-located

with HGMD-PUBLIC CM030030

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

Variant allele A
19:g.18783129G>A
ENST00000542601.5:c.2053C>T
ENSP00000439156.2:p.Arg685Trp
ENST00000222271.5:c.2152C>T
ENSP00000222271.2:p.Arg718Trp
ENST00000425807.1:c.1993C>T
ENSP00000403792.1:p.Arg665Trp

Variant allele T
19:g.18783129G>T
ENST00000542601.5:c.2053C>A
ENST00000222271.5:c.2152C>A
ENST00000425807.1:c.1993C>A

Variant allele C
19:g.18783129G>C
ENST00000542601.5:c.2053C>G
ENSP00000439156.2:p.Arg685Gly
ENST00000222271.5:c.2152C>G
ENSP00000222271.2:p.Arg718Gly
ENST00000425807.1:c.1993C>G
ENSP00000403792.1:p.Arg665Gly

Genotyping chips

This variation has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 16 transcripts, has 2504 individual genotypes and is associated with 3 phenotypes.

Variation displays