Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: 0.06 (C)

Chromosome 11:116791691 (forward strand) | View in location tab


with COSMIC COSM1351468 (G/A), COSM3979146 (G/C) ; HGMD-PUBLIC CM023881

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, 2 regulatory features, has 2539 sample genotypes, is associated with 2 phenotypes and is mentioned in 76 citations.

Variant displays