NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002538037.3
Allele description [Variation Report for NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)]
NM_020533.3(MCOLN1):c.589C>T (p.Pro197Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Proteasome-associated autoinflammatory syndrome 1
Proteasome-associated autoinflammatory syndrome 1MedGen
-
C4746851[conceptid] (1)
MedGen
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Last Updated: Oct 20, 2024