Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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 CM004698, CM101775 ; PhenCode CYBAbase_D0024:g.5268C>T (G/A), CYBAbase_D0024:g.5268C>G (G/C)

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_060579

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

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

Variation displays