Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.15 (A)

Chromosome 6:6318562 (forward strand) | View in location tab


with COSMIC COSM3762153 (C/A) ; HGMD-PUBLIC CM950376

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

This variant has assays on 12 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2510 sample genotypes, is associated with 4 phenotypes and is mentioned in 17 citations.

Variant displays