Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.47 (A)

Chromosome 4:6301627 (forward strand) | View in location tab


with COSMIC COSM149634 (G/A) ; HGMD-PUBLIC CM000447

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 6 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 5 transcripts, has 3918 sample genotypes, is associated with 1 phenotype and is mentioned in 18 citations.

Variant displays