NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) AND RYR1-related disorder
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001082011.8
Allele description [Variation Report for NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)]
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Telestes pleurobipunctatus haplotype PIN6 cytochrome b (Cytb) gene, partial cds;...
Telestes pleurobipunctatus haplotype PIN6 cytochrome b (Cytb) gene, partial cds; mitochondrialgi|1740138952|gb|MK585391.1|Nucleotide
-
Telestes pleurobipunctatus haplotype PIN3 cytochrome b (Cytb) gene, partial cds;...
Telestes pleurobipunctatus haplotype PIN3 cytochrome b (Cytb) gene, partial cds; mitochondrialgi|1740138946|gb|MK585388.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024