Original source

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

with COSMIC COSM1559579 (C/G) ; HGMD-PUBLIC CM014050

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

20:g.62819980C>T
ENST00000489045.4:n.353C>T
ENST00000343916.6:c.307C>T
ENSP00000341640.3:p.Arg103Trp
ENST00000477612.4:n.303C>T
ENST00000452372.1:c.196C>T
ENSP00000394280.1:p.Arg66Trp

Genotyping chips

This variation has assays on: Illumina_HumanOmni2.5, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2543 individual genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays