NM_001130987.2(DYSF):c.*142G>A AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001138536.4
Allele description [Variation Report for NM_001130987.2(DYSF):c.*142G>A]
NM_001130987.2(DYSF):c.*142G>A
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
PREDICTED: Selaginella moellendorffii uncharacterized LOC9629345 (LOC9629345), t...
PREDICTED: Selaginella moellendorffii uncharacterized LOC9629345 (LOC9629345), transcript variant X2, mRNAgi|1376980645|ref|XM_024663625.1|Nucleotide
-
SRP276670 (2)
SRA
-
MAG: DUF58 domain-containing protein [Verrucomicrobiota bacterium]
MAG: DUF58 domain-containing protein [Verrucomicrobiota bacterium]gi|1497972789|gb|RME67223.1||gnl|WG S|D6781_13680Protein
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Last Updated: Jun 29, 2024