NM_000540.3(RYR1):c.14869-2A>G AND RYR1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003592518.1
Allele description [Variation Report for NM_000540.3(RYR1):c.14869-2A>G]
NM_000540.3(RYR1):c.14869-2A>G
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Mus musculus high density lipoprotein (HDL) binding protein (Hdlbp), mRNA
Mus musculus high density lipoprotein (HDL) binding protein (Hdlbp), mRNAgi|19527027|ref|NM_133808.1|Nucleotide
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EC2BBA12AC01.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA ...
EC2BBA12AC01.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs12E01 5', mRNA sequencegi|45852593|gnl|dbEST|22184773|gb|C 36.1|Nucleotide
-
JGI_CAAO4319.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4319 3', mRNA...
JGI_CAAO4319.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO4319 3', mRNA sequencegi|71937307|gnl|dbEST|30598974|gb|C 39.2|Nucleotide
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Last Updated: May 19, 2024