NM_001378030.1(CCDC78):c.267+1G>C AND Congenital myopathy with internal nuclei and atypical cores
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003144704.3
Allele description [Variation Report for NM_001378030.1(CCDC78):c.267+1G>C]
NM_001378030.1(CCDC78):c.267+1G>C
Condition(s)
-
RecName: Full=Small ribosomal subunit protein eS1; AltName: Full=30S ribosomal p...
RecName: Full=Small ribosomal subunit protein eS1; AltName: Full=30S ribosomal protein S3Ae; AltName: Full=Ribosomal protein S1egi|59798719|sp|Q6KYU3.1|RS3A_PICTOProtein
-
Mus musculus pancreatic lipase, mRNA (cDNA clone MGC:74173 IMAGE:30316303), comp...
Mus musculus pancreatic lipase, mRNA (cDNA clone MGC:74173 IMAGE:30316303), complete cdsgi|38511660|gb|BC061061.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024