NM_000540.3(RYR1):c.4983C>T (p.Phe1661=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003591342.2
Allele description [Variation Report for NM_000540.3(RYR1):c.4983C>T (p.Phe1661=)]
NM_000540.3(RYR1):c.4983C>T (p.Phe1661=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Campylopodium euphorocladum isolate MDP16 small ribosomal protein subunit 4 (rps...
Campylopodium euphorocladum isolate MDP16 small ribosomal protein subunit 4 (rps4) gene, partial cds; and tRNA-Ser gene, partial sequence; chloroplastgi|67035603|gb|AY908095.1|Nucleotide
-
nssv1454603 (0)
Structure
-
nssv1454608 (1)
dbVar
-
SRX11001646 (1)
SRA
-
Otos otospiralin [Rattus norvegicus]
Otos otospiralin [Rattus norvegicus]Gene ID:246044Gene
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Last Updated: Sep 29, 2024