NM_000540.3(RYR1):c.6951G>A (p.Gly2317=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002606626.2
Allele description [Variation Report for NM_000540.3(RYR1):c.6951G>A (p.Gly2317=)]
NM_000540.3(RYR1):c.6951G>A (p.Gly2317=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
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Sitona hispidulus voucher ZFMK:TIS-20226 cytochrome c oxidase subunit 1 (COI) ge...
Sitona hispidulus voucher ZFMK:TIS-20226 cytochrome c oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|526455204|gb|KC784213.1|Nucleotide
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Taxonomy Links for Nucleotide (Select 1869284251) (1)
Taxonomy
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Nucleotide Links for Protein (Select 1435778515) (6)
Nucleotide
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Nucleotide Links for Protein (Select 1435778518) (4)
Nucleotide
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OMIM Links for Nucleotide (Select 1869284251) (2)
OMIM
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Last Updated: May 19, 2024