NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001140150.11
Allele description [Variation Report for NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)]
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Jun 29, 2024