NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000543402.24
Allele description [Variation Report for NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)]
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
-
Mus musculus unkempt-like (Drosophila), mRNA (cDNA clone IMAGE:30619605), comple...
Mus musculus unkempt-like (Drosophila), mRNA (cDNA clone IMAGE:30619605), complete cdsgi|58476119|gb|BC089378.1|Nucleotide
-
AGENCOURT_11043306 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6866524 5', mR...
AGENCOURT_11043306 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6866524 5', mRNA sequencegi|26043550|gnl|dbEST|15605142|gb|C 47.1|Nucleotide
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Last Updated: Sep 16, 2024