Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 11:36574985 (forward strand) | View in location tab


with COSMIC COSM542386 (C/T), COSM415610 (C/A) ; HGMD-PUBLIC CM981695 ; PhenCode RAG1base_HSRAG1:g.1793C>T (C/T), RAG1base_RAG1_DNA:g.7973C>T (C/T)

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 4 phenotypes.

Variant displays