NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001232486.7
Allele description [Variation Report for NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile)]
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
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yj77c05.r1 Soares breast 2NbHBst Homo sapiens cDNA clone IMAGE:154760 5', mRNA s...
yj77c05.r1 Soares breast 2NbHBst Homo sapiens cDNA clone IMAGE:154760 5', mRNA sequencegi|824683|gnl|dbEST|231696|gb|R5538Nucleotide
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Last Updated: Sep 29, 2024