NM_001130987.2(DYSF):c.389del (p.Ala130fs) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003735316.1
Allele description [Variation Report for NM_001130987.2(DYSF):c.389del (p.Ala130fs)]
NM_001130987.2(DYSF):c.389del (p.Ala130fs)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Feb 28, 2024