NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001499806.7
Allele description [Variation Report for NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)]
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
Homo sapiens chromosome 21 open reading frame 66 (C21orf66), transcript variant ...
Homo sapiens chromosome 21 open reading frame 66 (C21orf66), transcript variant 4, mRNAgi|22035563|ref|NM_058191.2|Nucleotide
-
Zea mays uncharacterized LOC100274182 (LOC100274182), mRNA
Zea mays uncharacterized LOC100274182 (LOC100274182), mRNAgi|226505463|ref|NM_001148556.1|Nucleotide
-
Tfp1p [Saccharomyces cerevisiae JAY291]
Tfp1p [Saccharomyces cerevisiae JAY291]gi|256270281|gb|EEU05498.1||gnl|WGS |C1Q_04144Protein
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Last Updated: Sep 29, 2024