NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) AND Congenital Muscular Dystrophy, alpha-dystroglycan related
- Germline classification:
- Benign (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:
- RCV001164711.4
Allele description [Variation Report for NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)]
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
Condition(s)
- Name:
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Identifiers:
- MedGen: CN239202
Assertion and evidence details
Last Updated: Aug 4, 2024