Original source

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

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

Chromosome 11:36594065 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM001326 ; PhenCode RAG2base_HSRAG2X:g.1305G>T (C/A), RAG2base_RAG2_DNA:g.5172G>T (C/A) ; dbSNP rs777706845 (C/-)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB RAG2_104G_C_010611

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 22 transcripts and is associated with 1 phenotype.

Variant displays