NM_002617.4(PEX10):c.498C>T (p.Val166=) AND Peroxisome biogenesis disorder, complementation group 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001427083.6
Allele description [Variation Report for NM_002617.4(PEX10):c.498C>T (p.Val166=)]
NM_002617.4(PEX10):c.498C>T (p.Val166=)
Condition(s)
- Name:
- Peroxisome biogenesis disorder, complementation group 7 (CG7)
- Synonyms:
- Peroxisome biogenesis disorder, complementation group B
- Identifiers:
- MedGen: C1864399
-
Homo sapiens elongin C (ELOC), transcript variant 5, mRNA
Homo sapiens elongin C (ELOC), transcript variant 5, mRNAgi|1890343753|ref|NM_001204860.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024