Original source

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

G/T | Ancestral: G | Ambiguity code: K

Chromosome 2:216478216 (forward strand) | View in location tab


with COSMIC COSM1306416 (G/C) ; HGMD-PUBLIC CM020320 ; PhenCode SMARCAL1base_D0079:g.64512G>T (G/T)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 13967

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays