Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (G)

Chromosome 1:236755191 (forward strand) | View in location tab


with COSMIC COSM906085 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB ACTN2_2147C_T_100410

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays