Original source

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

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

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

Co-located variants

COSMIC COSM974726 ; 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

Synonyms

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