NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) AND not provided
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000119437.2
Allele description [Variation Report for NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)]
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
LYR motif-containing protein 1 isoform 1 [Homo sapiens]
LYR motif-containing protein 1 isoform 1 [Homo sapiens]gi|1614230084|ref|NP_001356570.1|Protein
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Homo sapiens glutaminase 2 (GLS2), transcript variant 4, mRNA; nuclear gene for ...
Homo sapiens glutaminase 2 (GLS2), transcript variant 4, mRNA; nuclear gene for mitochondrial productgi|1890334077|ref|NM_001280797.2|Nucleotide
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Homo sapiens ATM interactor (ATMIN), transcript variant 1, mRNA
Homo sapiens ATM interactor (ATMIN), transcript variant 1, mRNAgi|1519246152|ref|NM_015251.3|Nucleotide
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Last Updated: Sep 29, 2024