NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000353556.14
Allele description [Variation Report for NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr)]
NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr)
Condition(s)
-
NADH-quinone oxidoreductase subunit 1 [Planctomycetes bacterium Pla133]
NADH-quinone oxidoreductase subunit 1 [Planctomycetes bacterium Pla133]gi|1712638419|gnl|DSMZ|Pla133_02450 DU65181.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024