Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_060579

HGVS names

This variant has 38 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays