NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000974487.14
Allele description [Variation Report for NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)]
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)
Condition(s)
-
mitogen-activated protein kinase 4 isoform X1 [Equus caballus]
mitogen-activated protein kinase 4 isoform X1 [Equus caballus]gi|1333702797|ref|XP_023503583.1|Protein
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Chain A, RING finger protein 126
Chain A, RING finger protein 126gi|168176990|pdb|2ECT|AProtein
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Klebsiella pneumoniae inhibitor-resistant beta-lactamase (blaSHV-49) gene, compl...
Klebsiella pneumoniae inhibitor-resistant beta-lactamase (blaSHV-49) gene, complete cdsgi|46452173|gb|AY528718.1|Nucleotide
-
EST114360 Supt cells Homo sapiens cDNA 5' end, mRNA sequence
EST114360 Supt cells Homo sapiens cDNA 5' end, mRNA sequencegi|1951090|gnl|dbEST|940066|gb|AA29 1|Nucleotide
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zk39h08.s1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:485247 3',...
zk39h08.s1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:485247 3', mRNA sequencegi|1515630|gnl|dbEST|655065|gb|AA03 1|Nucleotide
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Last Updated: May 12, 2024