Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)
Location

Chromosome 1:113834946 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041826

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

1:g.113834946A>G
ENST00000528414.5:c.1693T>C
ENSP00000435176.1:p.Trp565Arg
ENST00000420377.6:c.1858T>C
ENSP00000388229.2:p.Trp620Arg
ENST00000484147.5:n.1899T>C
ENST00000532224.5:c.*1136T>C
ENST00000359785.9:c.1858T>C
ENSP00000352833.5:p.Trp620Arg
ENST00000460620.5:c.469-15292T>C
ENST00000525799.1:c.1477T>C
ENSP00000432674.1:p.Trp493Arg
ENST00000538253.5:c.1786T>C
ENSP00000439372.2:p.Trp596Arg

This variant has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 3674 sample genotypes, is associated with 25 phenotypes and is mentioned in 368 citations.

Variant displays