NM_002187.3(IL12B):c.612G>C (p.Glu204Asp) AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000652138.6
Allele description [Variation Report for NM_002187.3(IL12B):c.612G>C (p.Glu204Asp)]
NM_002187.3(IL12B):c.612G>C (p.Glu204Asp)
Condition(s)
-
Delayed ossification of carpal bones
Delayed ossification of carpal bonesMedGen
-
Long philtrum
Long philtrumMedGen
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024