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
-
glycerophosphodiester phosphodiesterase 1 [Tribolium castaneum]
glycerophosphodiester phosphodiesterase 1 [Tribolium castaneum]gi|91077892|ref|XP_973098.1|Protein
-
Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 2, mRNA
Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 2, mRNAgi|1614230306|ref|NM_001128301.3|Nucleotide
-
LYR motif-containing protein 1 isoform 1 [Homo sapiens]
LYR motif-containing protein 1 isoform 1 [Homo sapiens]gi|1614230802|ref|NP_001356567.1|Protein
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Last Updated: Sep 29, 2024