NM_001130987.2(DYSF):c.315C>T (p.Pro105=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001418904.7
Allele description [Variation Report for NM_001130987.2(DYSF):c.315C>T (p.Pro105=)]
NM_001130987.2(DYSF):c.315C>T (p.Pro105=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
Protease, serine, 12 neurotrypsin (motopsin) [Mus musculus]
Protease, serine, 12 neurotrypsin (motopsin) [Mus musculus]gi|21619263|gb|AAH31429.1|Protein
-
Spc24 SPC24 component of NDC80 kinetochore complex [Rattus norvegicus]
Spc24 SPC24 component of NDC80 kinetochore complex [Rattus norvegicus]Gene ID:363028Gene
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Last Updated: Sep 29, 2024