Original source

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

C/G | Ancestral: C | Ambiguity code: S

Chromosome 11:36592817 (forward strand) | View in location tab


with HGMD-PUBLIC CM081770 ; PhenCode RAG2base_RAG2_DNA:g.6420G>C (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 5164

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays