NM_006892.4(DNMT3B):c.528C>T (p.Asp176=) AND Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003761095.2
Allele description [Variation Report for NM_006892.4(DNMT3B):c.528C>T (p.Asp176=)]
NM_006892.4(DNMT3B):c.528C>T (p.Asp176=)
Condition(s)
- Name:
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)
- Synonyms:
- ICF syndrome; Immunodeficiency syndrome, variable; Centromeric instability, immunodeficiency syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000133; MedGen: C0398788; OMIM: PS242860
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Mollusca ribosomal protein P0 mRNA, partial cds.
Mollusca ribosomal protein P0 mRNA, partial cds.PopSet: 289919131PopSet
-
Mollusca ribosomal protein L10a mRNA, partial cds.
Mollusca ribosomal protein L10a mRNA, partial cds.PopSet: 289919155PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024