Original source

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

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

Chromosome 11:36574986 (forward strand) | View in location tab


with HGMD-PUBLIC CM981694 ; PhenCode RAG1base_RAG1_DNA:g.7974G>A (G/A), RAG1base_HSRAG1:g.1794G>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

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays