Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.02 (T)
Location

Chromosome 20:62819980 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1559579 ; HGMD-PUBLIC CM014050

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

20:g.62819980C>T
ENST00000489045.5:n.353C>T
ENST00000343916.7:c.307C>T
ENSP00000341640.3:p.Arg103Trp
ENST00000477612.5:n.303C>T
ENST00000452372.1:c.196C>T
ENSP00000394280.1:p.Arg66Trp

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2543 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays