NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) AND Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001231627.7
Allele description [Variation Report for NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg)]
NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg)
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
-
Rattus norvegicus ADCYAP receptor type I (Adcyap1r1), transcript variant 2, mRNA
Rattus norvegicus ADCYAP receptor type I (Adcyap1r1), transcript variant 2, mRNAgi|396080324|ref|NM_133511.2|Nucleotide
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Last Updated: Sep 29, 2024