NM_001194998.2(CEP152):c.1650A>G (p.Val550=) AND Microcephaly 9, primary, autosomal recessive
- 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:
- RCV001116608.4
Allele description [Variation Report for NM_001194998.2(CEP152):c.1650A>G (p.Val550=)]
NM_001194998.2(CEP152):c.1650A>G (p.Val550=)
Condition(s)
-
Homo sapiens platelet and endothelial cell adhesion molecule 1 (PECAM1), RefSeqG...
Homo sapiens platelet and endothelial cell adhesion molecule 1 (PECAM1), RefSeqGene on chromosome 17gi|1024846788|ref|NG_047009.1|Nucleotide
-
Chain V, Ras-related GTP-binding protein A
Chain V, Ras-related GTP-binding protein Agi|2367144327|pdb|7UXH|VProtein
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Last Updated: Sep 29, 2024