NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser) AND Congenital myopathy with fiber type disproportion
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 20, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198333.2
Allele description [Variation Report for NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)]
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)
Condition(s)
-
AV332016 RIKEN full-length enriched, adult male medulla oblongata Mus musculus c...
AV332016 RIKEN full-length enriched, adult male medulla oblongata Mus musculus cDNA clone 6330529C21 3', mRNA sequencegi|6372068|gnl|dbEST|3448434|dbj|AV 6.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024