NM_001130987.2(DYSF):c.162C>T (p.Asp54=) AND Qualitative or quantitative defects of dysferlin
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001395097.7
Allele description [Variation Report for NM_001130987.2(DYSF):c.162C>T (p.Asp54=)]
NM_001130987.2(DYSF):c.162C>T (p.Asp54=)
Condition(s)
- Name:
- Qualitative or quantitative defects of dysferlin
- Synonyms:
- Dysferlinopathy
- Identifiers:
- MONDO: MONDO:0016145; MedGen: C2931687
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SLC9A8 solute carrier family 9 member A8 [Homo sapiens]
SLC9A8 solute carrier family 9 member A8 [Homo sapiens]Gene ID:23315Gene
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Gene Links for GEO Profiles (Select 33871851) (1)
Gene
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Last Updated: Sep 29, 2024