NM_000540.3(RYR1):c.7836-1G>A AND RYR1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003591771.1
Allele description [Variation Report for NM_000540.3(RYR1):c.7836-1G>A]
NM_000540.3(RYR1):c.7836-1G>A
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
CBWN3043.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8854868 5', mR...
CBWN3043.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8854868 5', mRNA sequencegi|133782687|gnl|dbEST|45212293|gb| 333.1|Nucleotide
-
CBWN2927.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855030 5', mR...
CBWN2927.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8855030 5', mRNA sequencegi|133782520|gnl|dbEST|45212126|gb| 166.1|Nucleotide
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Last Updated: Jul 29, 2024