NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546602.13
Allele description [Variation Report for NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)]
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Oct 20, 2024