NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001212709.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)]
NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homo sapiens casein kinase 2 alpha 2 (CSNK2A2), mRNA
Homo sapiens casein kinase 2 alpha 2 (CSNK2A2), mRNAgi|1519314526|ref|NM_001896.4|Nucleotide
-
glycosyl transferase [Faecalicatena sp. Marseille-Q4148]
glycosyl transferase [Faecalicatena sp. Marseille-Q4148]gi|2031376769|gnl|PRJNA719325|KFE17 5|gb|QUO31225.1|Protein
-
endo-1,4-beta-xylanase [Muribaculum gordoncarteri]
endo-1,4-beta-xylanase [Muribaculum gordoncarteri]gi|1622716601|gnl|PRJNA524751|E7746 0|gb|QCD35195.1|Protein
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Last Updated: Sep 29, 2024