Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 11:36575514 (forward strand) | View in location tab


with COSMIC COSM1470480 (G/A) ; HGMD-PUBLIC CM981696 ; PhenCode RAG1base_RAG1_DNA:g.8502G>A (G/A), RAG1base_HSRAG1:g.2322G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays