NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Oct 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779470.10
Allele description [Variation Report for NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter)]
NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter)
Condition(s)
-
Homo sapiens PIN2 (TERF1) interacting telomerase inhibitor 1 (PINX1), transcript...
Homo sapiens PIN2 (TERF1) interacting telomerase inhibitor 1 (PINX1), transcript variant 2, mRNAgi|1890328987|ref|NM_001284356.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024