Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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

with HGMD-PUBLIC CM023579

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 28 HGVS names - click the plus to show

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

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays