NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) AND Peroxisome biogenesis disorder 6A (Zellweger)
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472994.2
Allele description [Variation Report for NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)]
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
Condition(s)
-
C1orf105 chromosome 1 open reading frame 105 [Homo sapiens]
C1orf105 chromosome 1 open reading frame 105 [Homo sapiens]Gene ID:92346Gene
-
Gene Links for GEO Profiles (Select 55743957) (1)
Gene
-
MRO maestro [Homo sapiens]
MRO maestro [Homo sapiens]Gene ID:83876Gene
-
Gene Links for GEO Profiles (Select 55753892) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024