NM_000540.3(RYR1):c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG AND RYR1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001217983.3
Allele description [Variation Report for NM_000540.3(RYR1):c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG]
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
RecName: Full=cAMP-dependent protein kinase catalytic subunit gamma; Short=PKA C...
RecName: Full=cAMP-dependent protein kinase catalytic subunit gamma; Short=PKA C-gammagi|33860173|sp|P22612.3|KAPCG_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 19, 2024