NM_005535.3(IL12RB1):c.581-18C>T AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002114089.6
Allele description [Variation Report for NM_005535.3(IL12RB1):c.581-18C>T]
NM_005535.3(IL12RB1):c.581-18C>T
Condition(s)
-
Tssr29298 AND (alive[prop]) (0)
Gene
-
MAG: inorganic pyrophosphatase [Chloroflexi bacterium 54-19]
MAG: inorganic pyrophosphatase [Chloroflexi bacterium 54-19]gi|1113331168|gb|OJV95172.1||gnl|WG J|BGO39_24475Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024