All variants in the IFNGR2 gene

Information The variants shown are described using the NM_005534.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 3 c.340C>T r.(?) p.(Arg114Cys) - pathogenic (recessive) g.34793920C>T g.33421613C>T - - IFNGR2_000002 - PubMed: Doffinger 2000 - - Germline - - - - - LOVD
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