Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 11:36574491 (forward strand) | View in location tab


with COSMIC COSM304336 (G/A) ; HGMD-PUBLIC CM981691, CM010067 ; PhenCode RAG1base_HSRAG1:g.1299G>T (G/T), RAG1base_HSRAG1:g.1299G>A (G/A), RAG1base_RAG1_DNA:g.7479G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays