NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000193801.6
Allele description [Variation Report for NM_024596.5(MCPH1):c.1186C>A (p.His396Asn)]
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
nucleoporin (DUF3414) [Arabidopsis thaliana]
nucleoporin (DUF3414) [Arabidopsis thaliana]gi|334187295|ref|NP_195587.5|Protein
-
Chain B, Cell death protein 4
Chain B, Cell death protein 4gi|295321901|pdb|3LQQ|BProtein
-
CSaids binding protein [Homo sapiens]
CSaids binding protein [Homo sapiens]gi|603919|gb|AAA57456.1|Protein
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Last Updated: Oct 13, 2024