NM_000540.3(RYR1):c.14679G>A (p.Arg4893=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003756962.2
Allele description [Variation Report for NM_000540.3(RYR1):c.14679G>A (p.Arg4893=)]
NM_000540.3(RYR1):c.14679G>A (p.Arg4893=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
quinone-dependent dihydroorotate dehydrogenase [Shewanella decolorationis]
quinone-dependent dihydroorotate dehydrogenase [Shewanella decolorationis]gi|1720603408|gb|QDZ91034.1||gnl|PR 6101|D0436_11475Protein
-
carboxyl-terminal protease [Calditerrivibrio nitroreducens DSM 19672]
carboxyl-terminal protease [Calditerrivibrio nitroreducens DSM 19672]gi|312939692|gnl|jgi|Calni_0973|gb| 884.1|Protein
-
peptidase S41 [Dokdonia sp. Dokd-P16]
peptidase S41 [Dokdonia sp. Dokd-P16]gi|1387064574|gnl|PRJNA450898|DCS32 0|gb|AWH72729.1|Protein
-
carboxy- peptidase [Persephonella marina EX-H1]
carboxy- peptidase [Persephonella marina EX-H1]gi|225645332|gnl|jcvi|cds.PERMA_018 ACO03518.1|Protein
-
hcfc1b [Pleuronectes platessa]
hcfc1b [Pleuronectes platessa]Gene ID:128442941Gene
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Last Updated: Sep 29, 2024