NM_005535.3(IL12RB1):c.1081C>A (p.Arg361=) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jun 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000652145.9
Allele description [Variation Report for NM_005535.3(IL12RB1):c.1081C>A (p.Arg361=)]
NM_005535.3(IL12RB1):c.1081C>A (p.Arg361=)
Condition(s)
-
alpha-1-antitrypsin precursor [Homo sapiens]
alpha-1-antitrypsin precursor [Homo sapiens]gi|189163542|ref|NP_001121179.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024