Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: 0.01 (A)
Location

Chromosome 8:16155085 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3942587, COSM3942588 ; HGMD-PUBLIC CM023579

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 28 HGVS names - Hide

Variant allele A
8:g.16155085G>A
ENST00000350896.3:c.877C>T
ENSP00000262100.3:p.Arg293Ter
ENST00000355282.6:c.877C>T
ENSP00000347430.2:p.Arg293Ter
ENST00000519060.6:c.*236C>T
ENST00000445506.6:c.931C>T
ENSP00000405453.2:p.Arg311Ter
ENST00000262101.9:c.877C>T
ENSP00000262101.5:p.Arg293Ter
ENST00000522672.5:c.247C>T
ENSP00000430536.1:p.Arg83Ter
ENST00000381998.8:c.877C>T
ENSP00000371428.4:p.Arg293Ter

Variant allele C
8:g.16155085G>C
ENST00000350896.3:c.877C>G
ENSP00000262100.3:p.Arg293Gly
ENST00000355282.6:c.877C>G
ENSP00000347430.2:p.Arg293Gly
ENST00000519060.6:c.*236C>G
ENST00000445506.6:c.931C>G
ENSP00000405453.2:p.Arg311Gly
ENST00000262101.9:c.877C>G
ENSP00000262101.5:p.Arg293Gly
ENST00000522672.5:c.247C>G
ENSP00000430536.1:p.Arg83Gly
ENST00000381998.8:c.877C>G
ENSP00000371428.4:p.Arg293Gly

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, has 2506 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays