NM_000540.3(RYR1):c.7030G>A (p.Glu2344Lys) AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001232029.7
Allele description [Variation Report for NM_000540.3(RYR1):c.7030G>A (p.Glu2344Lys)]
NM_000540.3(RYR1):c.7030G>A (p.Glu2344Lys)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
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CBTC7422.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8939865 5',...
CBTC7422.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8939865 5', mRNA sequencegi|126270292|gnl|dbEST|45044119|gb| 567.1|Nucleotide
-
DC048641 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC048641 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk140h10ex 5', mRNA sequencegi|118980993|gnl|dbEST|43281516|dbj 8641.1|Nucleotide
-
CBTC5347.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8937428 3',...
CBTC5347.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8937428 3', mRNA sequencegi|126267131|gnl|dbEST|45040964|gb| 412.1|Nucleotide
-
CBST12793.fwd NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8931945 5',...
CBST12793.fwd NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8931945 5', mRNA sequencegi|126547871|gnl|dbEST|45061739|gb| 380.1|Nucleotide
-
AGENCOURT_86358643 NICHD_XGC_bone Xenopus laevis cDNA clone IMAGE:8739915 5', mR...
AGENCOURT_86358643 NICHD_XGC_bone Xenopus laevis cDNA clone IMAGE:8739915 5', mRNA sequencegi|111605623|gnl|dbEST|40946394|gb| 918.1|Nucleotide
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Last Updated: May 19, 2024