NM_000074.3(CD40LG):c.289-19G>A AND Hyper-IgM syndrome type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003828727.2
Allele description [Variation Report for NM_000074.3(CD40LG):c.289-19G>A]
NM_000074.3(CD40LG):c.289-19G>A
Condition(s)
- Name:
- Hyper-IgM syndrome type 1
- Synonyms:
- Immunodeficiency with hyper IgM type 1; Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010626; MedGen: C0398689; OMIM: 308230
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B12D protein [Arabidopsis thaliana]
B12D protein [Arabidopsis thaliana]gi|15230104|ref|NP_189632.1|Protein
-
Linkage Disequilibrium
Linkage DisequilibriumNonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected ...<br/>Year introduced: 1990MeSH
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Last Updated: Sep 29, 2024