NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Uncertain significance (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:
- RCV001344107.3
Allele description [Variation Report for NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln)]
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNA
Homo sapiens peripheral myelin protein 2 (PMP2), transcript variant 1, mRNAgi|1143077036|ref|NM_002677.4|Nucleotide
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Last Updated: Sep 29, 2024