NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) AND Seckel syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001116611.4
Allele description [Variation Report for NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln)]
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln)
Condition(s)
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PREDICTED: Homo sapiens zinc finger protein 648 (ZNF648), transcript variant X2,...
PREDICTED: Homo sapiens zinc finger protein 648 (ZNF648), transcript variant X2, mRNAgi|2217264015|ref|XM_024453260.2|Nucleotide
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RecName: Full=Leucine-rich repeat and fibronectin type III domain-containing pro...
RecName: Full=Leucine-rich repeat and fibronectin type III domain-containing protein 1; AltName: Full=Synaptic adhesion-like molecule 2; Flags: Precursorgi|189028595|sp|P0C7J6.1|LRFN1_RATProtein
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Allopurinol Therapy and HLA-B*58:01 Genotype - Medical Genetics Summaries
Allopurinol Therapy and HLA-B*58:01 Genotype - Medical Genetics Summaries
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LOC127895454 [Homo sapiens]
LOC127895454 [Homo sapiens]Gene ID:127895454Gene
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Last Updated: May 1, 2024