NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe) AND Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002231639.11
Allele description [Variation Report for NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe)]
NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe)
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
-
Metagenome or environmental sample from soil metagenome
Metagenome or environmental sample from soil metagenomebiosample
-
DnaJ (Hsp40) homolog, subfamily B, member 4, isoform CRA_a [Rattus norvegicus]
DnaJ (Hsp40) homolog, subfamily B, member 4, isoform CRA_a [Rattus norvegicus]gi|149026244|gb|EDL82487.1||gnl|WGS |rCP15320Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024