Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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_RAG2_DNA:g.5351G>A (C/T), RAG2base_HSRAG2X:g.1484G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

Genotyping chips

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

About this variant

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

Variant displays