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)
-
Rattus norvegicus janus kinase and microtubule interacting protein 2 (Jakmip2), ...
Rattus norvegicus janus kinase and microtubule interacting protein 2 (Jakmip2), mRNAgi|157817557|ref|NM_001107391.1|Nucleotide
-
Gask1b golgi associated kinase 1B [Rattus norvegicus]
Gask1b golgi associated kinase 1B [Rattus norvegicus]Gene ID:310540Gene
-
310540[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 1, 2024