Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (T)

Chromosome 1:158685251 (forward strand) | View in location tab


with COSMIC COSM1499094 (G/C) ; HGMD-PUBLIC CM890106

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 5431

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 2 phenotypes.

Variant displays