Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 16:88646774 (forward strand) | View in location tab


with COSMIC COSM974726 (G/A) ; HGMD-PUBLIC CM101775, CM004698 ; PhenCode CYBAbase_D0024:g.5268C>G (G/C), CYBAbase_D0024:g.5268C>T (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_060579

This variant has 19 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 11 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays