NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) AND Dilated cardiomyopathy 1BB
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001335883.1
Allele description [Variation Report for NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)]
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
Condition(s)
-
RecName: Full=Superoxide dismutase [Mn], mitochondrial; Flags: Precursor
RecName: Full=Superoxide dismutase [Mn], mitochondrial; Flags: Precursorgi|1316032214|sp|P04179.3|SODM_HUMAProtein
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Lactobacillus backii strain R-50069 phenylalanyl-tRNA synthase alpha subunit gen...
Lactobacillus backii strain R-50069 phenylalanyl-tRNA synthase alpha subunit gene, partial cdsgi|604233850|gb|KF910147.1|Nucleotide
-
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase [Homo sapiens]
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase [Homo sapiens]Gene ID:55907Gene
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Last Updated: May 7, 2024