Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.28 (T)

Chromosome 1:47416825 (forward strand) | View in location tab


with COSMIC COSM3751263 (C/T)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


LSDB NM_012186.2:c.510C>T

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays