NM_000540.3(RYR1):c.12854C>T (p.Thr4285Met) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001937354.5
Allele description [Variation Report for NM_000540.3(RYR1):c.12854C>T (p.Thr4285Met)]
NM_000540.3(RYR1):c.12854C>T (p.Thr4285Met)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
C-terminal-binding protein 2-like isoform X2 [Phocoena sinus]
C-terminal-binding protein 2-like isoform X2 [Phocoena sinus]gi|1814609786|ref|XP_032467571.1|Protein
-
uncharacterized protein ColSpa_12273 [Colletotrichum spaethianum]
uncharacterized protein ColSpa_12273 [Colletotrichum spaethianum]gi|2272229935|ref|XP_049134442.1|Protein
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Cryptococcus neoformans var. neoformans B-3501A hypothetical protein (CNBL0520),...
Cryptococcus neoformans var. neoformans B-3501A hypothetical protein (CNBL0520), partial mRNAgi|134117601|ref|XM_767479.1|Nucleotide
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Fractures, Ununited
Fractures, UnunitedA fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)<br/>MeSH
-
Radiodermatitis
RadiodermatitisA cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation.<br/>Year introduced: 1966(1964)MeSH
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Last Updated: Sep 29, 2024