Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


LSDB 13967

This variation has 10 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variation displays