NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001062505.8
Allele description [Variation Report for NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)]
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Jun 9, 2024