NM_000540.3(RYR1):c.6897G>C (p.Val2299=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002222710.8
Allele description [Variation Report for NM_000540.3(RYR1):c.6897G>C (p.Val2299=)]
NM_000540.3(RYR1):c.6897G>C (p.Val2299=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens CWF19 like cell cycle control factor 1 (CWF19L1), transcript varian...
Homo sapiens CWF19 like cell cycle control factor 1 (CWF19L1), transcript variant 2, mRNAgi|1676317605|ref|NM_001303404.2|Nucleotide
-
epididymis secretory protein Li 35 [Homo sapiens]
epididymis secretory protein Li 35 [Homo sapiens]gi|211947953|gb|ACJ13698.1|Protein
-
phosphoglycerate mutase 1 (brain), isoform CRA_b [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_b [Homo sapiens]gi|119570329|gb|EAW49944.1||gnl|WGS |hCP1718460Protein
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Last Updated: Oct 26, 2024