NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083489.2
Allele description
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Apr 23, 2022