Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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