Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 11:36594046 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981698 ; PhenCode RAG2base_HSRAG2X:g.1324C>G (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5157, 2010_April_001_279_RAG2_179616_0003

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 44 transcripts and is associated with 2 phenotypes.

Variant displays