MCID: RCM001
MIFTS: 4

Recombinase Activating Gene 2 Deficiency

Categories: Immune diseases

Aliases & Classifications for Recombinase Activating Gene 2 Deficiency

MalaCards integrated aliases for Recombinase Activating Gene 2 Deficiency:

Name: Recombinase Activating Gene 2 Deficiency 12 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0060012

Summaries for Recombinase Activating Gene 2 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.

MalaCards based summary : Recombinase Activating Gene 2 Deficiency An important gene associated with Recombinase Activating Gene 2 Deficiency is RAG2 (Recombination Activating 2).

Related Diseases for Recombinase Activating Gene 2 Deficiency

Symptoms & Phenotypes for Recombinase Activating Gene 2 Deficiency

Drugs & Therapeutics for Recombinase Activating Gene 2 Deficiency

Search Clinical Trials , NIH Clinical Center for Recombinase Activating Gene 2 Deficiency

Genetic Tests for Recombinase Activating Gene 2 Deficiency

Anatomical Context for Recombinase Activating Gene 2 Deficiency

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Variations for Recombinase Activating Gene 2 Deficiency

ClinVar genetic disease variations for Recombinase Activating Gene 2 Deficiency:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_000536.3(RAG2): c.1433G> A (p.Cys478Tyr) single nucleotide variant Uncertain significance rs121918573 GRCh37 Chromosome 11, 36614286: 36614286
2 RAG2 NM_000536.3(RAG2): c.1433G> A (p.Cys478Tyr) single nucleotide variant Uncertain significance rs121918573 GRCh38 Chromosome 11, 36592736: 36592736
3 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
4 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh38 Chromosome 11, 36593483: 36593483
5 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
6 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh38 Chromosome 11, 36594046: 36594046
7 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
8 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh38 Chromosome 11, 36593315: 36593315
9 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh37 Chromosome 11, 36615075: 36615075
10 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh38 Chromosome 11, 36593525: 36593525
11 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
12 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh38 Chromosome 11, 36594054: 36594054
13 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh37 Chromosome 11, 36615489: 36615489
14 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh38 Chromosome 11, 36593939: 36593939
15 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh37 Chromosome 11, 36614367: 36614367
16 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh38 Chromosome 11, 36592817: 36592817
17 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148508754 GRCh37 Chromosome 11, 36615615: 36615615
18 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148508754 GRCh38 Chromosome 11, 36594065: 36594065
19 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
20 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh38 Chromosome 11, 36592922: 36592922
21 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922573 GRCh37 Chromosome 11, 36614410: 36614410
22 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922573 GRCh38 Chromosome 11, 36592860: 36592860
23 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922575 GRCh37 Chromosome 11, 36615391: 36615391
24 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922575 GRCh38 Chromosome 11, 36593841: 36593841
25 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh38 Chromosome 11, 36593011: 36593011
26 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh37 Chromosome 11, 36614561: 36614561
27 RAG2 NM_000536.3(RAG2): c.539C> A (p.Pro180His) single nucleotide variant Pathogenic/Likely pathogenic rs1064793251 GRCh37 Chromosome 11, 36615180: 36615180
28 RAG2 NM_000536.3(RAG2): c.539C> A (p.Pro180His) single nucleotide variant Pathogenic/Likely pathogenic rs1064793251 GRCh38 Chromosome 11, 36593630: 36593630
29 RAG2 NM_000536.3(RAG2): c.479C> T (p.Ser160Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs756694972 GRCh37 Chromosome 11, 36615240: 36615240
30 RAG2 NM_000536.3(RAG2): c.479C> T (p.Ser160Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs756694972 GRCh38 Chromosome 11, 36593690: 36593690
31 RAG2 NM_000536.3(RAG2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs909264507 GRCh37 Chromosome 11, 36615526: 36615526
32 RAG2 NM_000536.3(RAG2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs909264507 GRCh38 Chromosome 11, 36593976: 36593976
33 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh37 Chromosome 11, 36614215: 36614215
34 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh38 Chromosome 11, 36592665: 36592665
35 RAG2 NM_000536.3(RAG2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1554947410 GRCh37 Chromosome 11, 36615717: 36615717
36 RAG2 NM_000536.3(RAG2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1554947410 GRCh38 Chromosome 11, 36594167: 36594167
37 RAG2 NM_000536.3(RAG2): c.1442A> C (p.His481Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36614277: 36614277
38 RAG2 NM_000536.3(RAG2): c.1442A> C (p.His481Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36592727: 36592727
39 RAG2 NM_000536.3(RAG2): c.1421A> G (p.Asn474Ser) single nucleotide variant Likely benign GRCh37 Chromosome 11, 36614298: 36614298
40 RAG2 NM_000536.3(RAG2): c.1421A> G (p.Asn474Ser) single nucleotide variant Likely benign GRCh38 Chromosome 11, 36592748: 36592748
41 RAG2 NM_000536.3(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614344: 36614344
42 RAG2 NM_000536.3(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592794: 36592794
43 RAG2 NM_000536.3(RAG2): c.1366G> A (p.Ala456Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592803: 36592803
44 RAG2 NM_000536.3(RAG2): c.1366G> A (p.Ala456Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614353: 36614353
45 RAG2 NM_000536.3(RAG2): c.1357T> A (p.Trp453Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614362: 36614362
46 RAG2 NM_000536.3(RAG2): c.1357T> A (p.Trp453Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592812: 36592812
47 RAG2 NM_000536.3(RAG2): c.1338C> G (p.Cys446Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592831: 36592831
48 RAG2 NM_000536.3(RAG2): c.1338C> G (p.Cys446Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614381: 36614381
49 RAG2 NM_000536.3(RAG2): c.1332C> G (p.Ile444Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36592837: 36592837
50 RAG2 NM_000536.3(RAG2): c.1332C> G (p.Ile444Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36614387: 36614387

Expression for Recombinase Activating Gene 2 Deficiency

Search GEO for disease gene expression data for Recombinase Activating Gene 2 Deficiency.

Pathways for Recombinase Activating Gene 2 Deficiency

GO Terms for Recombinase Activating Gene 2 Deficiency

Sources for Recombinase Activating Gene 2 Deficiency

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