NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000538423.5
Allele description [Variation Report for NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)]
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
Assertion and evidence details
Last Updated: Sep 29, 2024