NM_001848.3(COL6A1):c.984C>T (p.Asp328=) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000548193.9
Allele description [Variation Report for NM_001848.3(COL6A1):c.984C>T (p.Asp328=)]
NM_001848.3(COL6A1):c.984C>T (p.Asp328=)
Condition(s)
-
sodium channel protein type 2 subunit alpha [Rattus norvegicus]
sodium channel protein type 2 subunit alpha [Rattus norvegicus]gi|1937915893|ref|NP_036779.2|Protein
-
Chain K, RIBOSOMAL PROTEIN L13
Chain K, RIBOSOMAL PROTEIN L13gi|34811126|pdb|1K73|KProtein
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Last Updated: Jul 23, 2024