Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 11:36593886 (forward strand) | View in location tab


with HGMD-PUBLIC CM003470 ; PhenCode RAG2base_HSRAG2X:g.1484G>A (C/T), RAG2base_RAG2_DNA:g.5351G>A (C/T)

Most severe consequence
Evidence status

Clinical significance


LSDB 2010_April_001_281_RAG2_179616_0005, 5159

This variation has 11 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_Human1M-duo

About this variant

This variant overlaps 22 transcripts, has 41 individual genotypes and is associated with 2 phenotypes.

Variation displays