NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001034231.7
Allele description [Variation Report for NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)]
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)
Condition(s)
-
succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial...
succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial [Xenopus laevis]gi|147899830|ref|NP_001088989.1|Protein
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Succinate dehydrogenase cytochrome b small subunit, mitochondrial precursor, par...
Succinate dehydrogenase cytochrome b small subunit, mitochondrial precursor, partial [Mustela putorius furo]gi|355718225|gb|AES06199.1|Protein
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RecName: Full=Succinate dehydrogenase [ubiquinone] cytochrome b small subunit B,...
RecName: Full=Succinate dehydrogenase [ubiquinone] cytochrome b small subunit B, mitochondrial; Short=CybS-B; AltName: Full=Malate dehydrogenase [quinone] cytochrome b small subunit; AltName: Full=Succinate dehydrogenase complex subunit D-B; AltName: Full=Succinate-ubiquinone oxidoreductase cytochrome b small subunit B; AltName: Full=Succinate-ubiquinone reductase membrane anchor subunit B; Flags: Precursorgi|82182065|sp|Q6AZV0.1|DHSDB_XENLAProtein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024