Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.24 (A)

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


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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts, has 1098 individual genotypes, is associated with 2 phenotypes and is mentioned in 8 citations.

Variation displays