Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5164

This variant has 10 HGVS names - click the plus to 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