Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.26 (T)

Chromosome 12:6347896 (forward strand) | View in location tab


with COSMIC COSM1747194 (T/C) ; HGMD-PUBLIC CM994637

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 11 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 9 transcripts, 1 regulatory feature, has 2952 sample genotypes, is associated with 1 phenotype and is mentioned in 13 citations.

Variant displays