NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002717650.2
Allele description [Variation Report for NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn)]
NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Chain A, PHD finger protein 8
Chain A, PHD finger protein 8gi|284055673|pdb|3K3O|AProtein
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Taxonomy Links for BioSample (Select 20858330) (1)
Taxonomy
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Last Updated: May 1, 2024