NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=) AND Collagen 6-related myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001138289.4
Allele description [Variation Report for NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=)]
NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=)
Condition(s)
- Name:
- Collagen 6-related myopathy
- Synonyms:
- Collagen VI-related myopathy
- Identifiers:
- MONDO: MONDO:0100225; MedGen: CN117976
-
Citrus paradisi
Citrus paradisiA plant species of the genus CITRUS, family RUTACEAE that produces the familiar grapefruit. There is evidence that grapefruit inhibits CYTOCHROME P-450 CYP3A4, resulting in de...<br/>Year introduced: 2003MeSH
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023