NM_000540.3(RYR1):c.7260C>T (p.His2420=) AND RYR1-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000527440.8
Allele description [Variation Report for NM_000540.3(RYR1):c.7260C>T (p.His2420=)]
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Homo sapiens iodothyronine deiodinase 1 (DIO1), transcript variant 1, mRNA
Homo sapiens iodothyronine deiodinase 1 (DIO1), transcript variant 1, mRNAgi|1677537465|ref|NM_000792.7|Nucleotide
-
ELOVL6 [Zonotrichia albicollis]
ELOVL6 [Zonotrichia albicollis]Gene ID:102074944Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024