Original source

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

G/A|Ancestral: G|Ambiguity code: R

Chromosome 22:40364965 (forward strand)|View in location tab

Co-located variants

COSMIC COSM187456, COSM187457 ; HGMD-PUBLIC CM990123

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 15583

HGVS names

This variant has 15 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays