Original source

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

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

Chromosome 1:225411411 (forward strand) | View in location tab


with COSMIC COSM1339247 (G/A) ; HGMD-PUBLIC CM103221

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 24572

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays