MCID: RRM002
MIFTS: 3

Rrm2b-Related Mitochondrial Disease

Categories: Neuronal diseases

Aliases & Classifications for Rrm2b-Related Mitochondrial Disease

MalaCards integrated aliases for Rrm2b-Related Mitochondrial Disease:

Name: Rrm2b-Related Mitochondrial Disease 24 6

Characteristics:

GeneReviews:

24
Penetrance The clinical manifestations of rrm2b-related disorders are similar in males and females...

Classifications:



Summaries for Rrm2b-Related Mitochondrial Disease

MalaCards based summary : Rrm2b-Related Mitochondrial Disease An important gene associated with Rrm2b-Related Mitochondrial Disease is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B).

GeneReviews: NBK195854

Related Diseases for Rrm2b-Related Mitochondrial Disease

Diseases in the Mitochondrial Disorders family:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease

Symptoms & Phenotypes for Rrm2b-Related Mitochondrial Disease

Drugs & Therapeutics for Rrm2b-Related Mitochondrial Disease

Search Clinical Trials , NIH Clinical Center for Rrm2b-Related Mitochondrial Disease

Genetic Tests for Rrm2b-Related Mitochondrial Disease

Anatomical Context for Rrm2b-Related Mitochondrial Disease

Publications for Rrm2b-Related Mitochondrial Disease

Articles related to Rrm2b-Related Mitochondrial Disease:

# Title Authors Year
1
RRM2B-Related Mitochondrial Disease ( 24741716 )
1993

Variations for Rrm2b-Related Mitochondrial Disease

ClinVar genetic disease variations for Rrm2b-Related Mitochondrial Disease:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh37 Chromosome 8, 103225057: 103225057
2 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh38 Chromosome 8, 102212829: 102212829
3 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh37 Chromosome 8, 103237248: 103237248
4 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh38 Chromosome 8, 102225020: 102225020
5 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh37 Chromosome 8, 103231146: 103231146
6 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh38 Chromosome 8, 102218918: 102218918
7 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh37 Chromosome 8, 103226364: 103226364
8 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh38 Chromosome 8, 102214136: 102214136
9 RRM2B NM_015713.4(RRM2B): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs121918310 GRCh37 Chromosome 8, 103220438: 103220438
10 RRM2B NM_015713.4(RRM2B): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs121918310 GRCh38 Chromosome 8, 102208210: 102208210
11 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh37 Chromosome 8, 103226385: 103226385
12 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh38 Chromosome 8, 102214157: 102214157
13 RRM2B NM_015713.4(RRM2B): c.329G> A (p.Arg110His) single nucleotide variant Pathogenic rs267607025 GRCh37 Chromosome 8, 103237239: 103237239
14 RRM2B NM_015713.4(RRM2B): c.329G> A (p.Arg110His) single nucleotide variant Pathogenic rs267607025 GRCh38 Chromosome 8, 102225011: 102225011
15 RRM2B NM_015713.4(RRM2B): c.362G> A (p.Arg121His) single nucleotide variant Pathogenic rs267607024 GRCh37 Chromosome 8, 103237206: 103237206
16 RRM2B NM_015713.4(RRM2B): c.362G> A (p.Arg121His) single nucleotide variant Pathogenic rs267607024 GRCh38 Chromosome 8, 102224978: 102224978
17 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh37 Chromosome 8, 103220467: 103220467
18 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh38 Chromosome 8, 102208239: 102208239
19 RRM2B NM_015713.4(RRM2B): c.965dupA (p.Asn322Lysfs) duplication Pathogenic rs515726201 GRCh37 Chromosome 8, 103220452: 103220452
20 RRM2B NM_015713.4(RRM2B): c.965dupA (p.Asn322Lysfs) duplication Pathogenic rs515726201 GRCh38 Chromosome 8, 102208224: 102208224
21 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh37 Chromosome 8, 103231120: 103231120
22 RRM2B NM_015713.4(RRM2B): c.606T> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs515726194 GRCh38 Chromosome 8, 102218892: 102218892
23 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh37 Chromosome 8, 103225090: 103225090
24 RRM2B NM_015713.4(RRM2B): c.817G> A (p.Gly273Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906891 GRCh38 Chromosome 8, 102212862: 102212862
25 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh37 Chromosome 8, 103244484: 103244484
26 RRM2B NM_015713.4(RRM2B): c.97C> T (p.Pro33Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906892 GRCh38 Chromosome 8, 102232256: 102232256
27 RRM2B NM_015713.4(RRM2B): c.368T> C (p.Phe123Ser) single nucleotide variant Pathogenic rs515726187 GRCh38 Chromosome 8, 102224972: 102224972
28 RRM2B NM_015713.4(RRM2B): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs515726188 GRCh37 Chromosome 8, 103237177: 103237177
29 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh37 Chromosome 8, 103251055: 103251055
30 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh38 Chromosome 8, 102238827: 102238827
31 RRM2B NM_015713.4(RRM2B): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs515726181 GRCh37 Chromosome 8, 103244460: 103244460
32 RRM2B NM_015713.4(RRM2B): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs515726181 GRCh38 Chromosome 8, 102232232: 102232232
33 RRM2B NM_015713.4(RRM2B): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic rs200273673 GRCh37 Chromosome 8, 103244459: 103244459
34 RRM2B NM_015713.4(RRM2B): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic rs200273673 GRCh38 Chromosome 8, 102232231: 102232231
35 RRM2B NM_015713.4(RRM2B): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs200273673 GRCh37 Chromosome 8, 103244459: 103244459
36 RRM2B NM_015713.4(RRM2B): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs200273673 GRCh38 Chromosome 8, 102232231: 102232231
37 RRM2B NM_015713.4(RRM2B): c.190T> C (p.Trp64Arg) single nucleotide variant Pathogenic rs515726182 GRCh37 Chromosome 8, 103244391: 103244391
38 RRM2B NM_015713.4(RRM2B): c.190T> C (p.Trp64Arg) single nucleotide variant Pathogenic rs515726182 GRCh38 Chromosome 8, 102232163: 102232163
39 RRM2B NM_015713.4(RRM2B): c.208G> A (p.Asp70Asn) single nucleotide variant Pathogenic rs515726183 GRCh37 Chromosome 8, 103238259: 103238259
40 RRM2B NM_015713.4(RRM2B): c.208G> A (p.Asp70Asn) single nucleotide variant Pathogenic rs515726183 GRCh38 Chromosome 8, 102226031: 102226031
41 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh37 Chromosome 8, 103238212: 103238214
42 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh38 Chromosome 8, 102225984: 102225986
43 RRM2B NM_015713.4(RRM2B): c.322-2A> C single nucleotide variant Pathogenic rs515726185 GRCh37 Chromosome 8, 103237248: 103237248
44 RRM2B NM_015713.4(RRM2B): c.322-2A> C single nucleotide variant Pathogenic rs515726185 GRCh38 Chromosome 8, 102225020: 102225020
45 RRM2B NM_015713.4(RRM2B): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs515726186 GRCh37 Chromosome 8, 103237240: 103237240
46 RRM2B NM_015713.4(RRM2B): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs515726186 GRCh38 Chromosome 8, 102225012: 102225012
47 RRM2B NM_015713.4(RRM2B): c.368T> C (p.Phe123Ser) single nucleotide variant Pathogenic rs515726187 GRCh37 Chromosome 8, 103237200: 103237200
48 RRM2B NM_015713.4(RRM2B): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs515726188 GRCh38 Chromosome 8, 102224949: 102224949
49 RRM2B NM_015713.4(RRM2B): c.431C> T (p.Thr144Ile) single nucleotide variant Uncertain significance rs515726189 GRCh38 Chromosome 8, 102224909: 102224909
50 RRM2B NM_015713.4(RRM2B): c.431C> T (p.Thr144Ile) single nucleotide variant Uncertain significance rs515726189 GRCh37 Chromosome 8, 103237137: 103237137

Expression for Rrm2b-Related Mitochondrial Disease

Search GEO for disease gene expression data for Rrm2b-Related Mitochondrial Disease.

Pathways for Rrm2b-Related Mitochondrial Disease

GO Terms for Rrm2b-Related Mitochondrial Disease

Sources for Rrm2b-Related Mitochondrial Disease

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