Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 24572

This variant has 6 HGVS names - click the plus to 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