NM_000540.3(RYR1):c.6897G>C (p.Val2299=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001427340.16
Allele description [Variation Report for NM_000540.3(RYR1):c.6897G>C (p.Val2299=)]
NM_000540.3(RYR1):c.6897G>C (p.Val2299=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
glycogen debranching enzyme isoform X3 [Apteryx rowi]
glycogen debranching enzyme isoform X3 [Apteryx rowi]gi|1444474949|ref|XP_025913461.1|Protein
-
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA seq...
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA sequencegi|19376946|gnl|dbEST|11609996|gb|B 67.1|Nucleotide
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Last Updated: Oct 26, 2024