NM_002617.4(PEX10):c.444C>A (p.His148Gln) AND Peroxisome biogenesis disorder, complementation group 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003073586.2
Allele description [Variation Report for NM_002617.4(PEX10):c.444C>A (p.His148Gln)]
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
Condition(s)
- Name:
- Peroxisome biogenesis disorder, complementation group 7 (CG7)
- Synonyms:
- Peroxisome biogenesis disorder, complementation group B
- Identifiers:
- MedGen: C1864399
-
Endobronchial lipoma
Endobronchial lipomaMedGen
-
Extrahepatic bile duct lipoma
Extrahepatic bile duct lipomaMedGen
-
Infiltrating angiolipoma
Infiltrating angiolipomaMedGen
-
Conventional lipoma
Conventional lipomaMedGen
-
External ear lipoma
External ear lipomaMedGen
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Last Updated: Sep 29, 2024