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 1:158685289 (forward strand) | View in location tab


with COSMIC COSM3399856 (C/T) ; HGMD-PUBLIC CM910357, CM900201

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays