NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001496436.6
Allele description [Variation Report for NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=)]
NM_001130987.2(DYSF):c.3108C>A (p.Ile1036=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
Epidendroideae ribulose-1,5-bisphosphate carboxylase/oxygenase (rbcL) gene, part...
Epidendroideae ribulose-1,5-bisphosphate carboxylase/oxygenase (rbcL) gene, partial cds; chloroplast.PopSet: 18077929PopSet
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Last Updated: Feb 20, 2024