NM_006892.4(DNMT3B):c.583A>G (p.Ser195Gly) AND Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003761029.2
Allele description [Variation Report for NM_006892.4(DNMT3B):c.583A>G (p.Ser195Gly)]
NM_006892.4(DNMT3B):c.583A>G (p.Ser195Gly)
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
-
putative AAA ATPase [Trypanosoma theileri]
putative AAA ATPase [Trypanosoma theileri]gi|1624756022|ref|XP_028879792.1|Protein
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Beta-galactosidase [Fulvia fulva]
Beta-galactosidase [Fulvia fulva]gi|2234814121|ref|XP_047758259.1|Protein
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LOC4334679 [Oryza sativa Japonica Group]
LOC4334679 [Oryza sativa Japonica Group]Gene ID:4334679Gene
-
Conserved Domain Links for Protein (Select 729990) (2)
Conserved Domains
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024