Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.01 (A)

Chromosome 11:116790676 (forward strand) | View in location tab


with COSMIC COSM686256 (C/T) ; HGMD-PUBLIC CM032546

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

This variant has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 11 transcripts, has 2571 sample genotypes, is associated with 2 phenotypes and is mentioned in 26 citations.

Variant displays