NM_005535.3(IL12RB1):c.666G>C (p.Trp222Cys) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002985566.3
Allele description [Variation Report for NM_005535.3(IL12RB1):c.666G>C (p.Trp222Cys)]
NM_005535.3(IL12RB1):c.666G>C (p.Trp222Cys)
Condition(s)
-
Homo sapiens family with sequence similarity 163 member A (FAM163A), transcript ...
Homo sapiens family with sequence similarity 163 member A (FAM163A), transcript variant 8, mRNAgi|1677493729|ref|NM_001329718.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024