NM_001170629.2(CHD8):c.1167C>T (p.Ser389=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002617778.2
Allele description [Variation Report for NM_001170629.2(CHD8):c.1167C>T (p.Ser389=)]
NM_001170629.2(CHD8):c.1167C>T (p.Ser389=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
IBTK protein [Homo sapiens]
IBTK protein [Homo sapiens]gi|219518906|gb|AAI43746.1|Protein
-
carbonic anhydrase-related protein 11 precursor [Rattus norvegicus]
carbonic anhydrase-related protein 11 precursor [Rattus norvegicus]gi|28316718|ref|NP_783639.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024