NM_002485.5(NBN):c.2216T>C (p.Leu739Pro) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001872072.6
Allele description [Variation Report for NM_002485.5(NBN):c.2216T>C (p.Leu739Pro)]
NM_002485.5(NBN):c.2216T>C (p.Leu739Pro)
Condition(s)
- Name:
- Microcephaly, normal intelligence and immunodeficiency (NBS)
- Synonyms:
- IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260
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Dairying
DairyingProduction, storage, and distribution of DAIRY PRODUCTS.<br/>MeSH
-
Hydroponics
HydroponicsA technique for growing plants in culture solutions rather than in soil. The roots are immersed in an aerated solution containing the correct proportions of essential mineral ...<br/>Year introduced: 1995MeSH
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Last Updated: Sep 29, 2024