Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.16 (T)

Chromosome 19:5831829 (forward strand) | View in location tab


with COSMIC COSM4001029 (C/T), COSM4001030 (C/T) ; HGMD-PUBLIC CM940795

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays