Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (T)

Chromosome 2:98396811 (forward strand) | View in location tab


with COSMIC COSM1024216 (C/T) ; HGMD-PUBLIC CM980380

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 8881, 2010_April_001_021_CNGA3_600053_0006

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays