Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.25 (A)

Chromosome 4:41257616 (forward strand) | View in location tab


with COSMIC COSM4159070 (C/A) ; HGMD-PUBLIC CM994452

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays