NM_001710.6(CFB):c.1730T>C (p.Val577Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003209247.2
Allele description [Variation Report for NM_001710.6(CFB):c.1730T>C (p.Val577Ala)]
NM_001710.6(CFB):c.1730T>C (p.Val577Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabid...
P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabidopsis thaliana]gi|15240788|ref|NP_201564.1|Protein
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Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]
Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]Gene ID:293637Gene
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Last Updated: May 1, 2024