NM_002485.5(NBN):c.585-1G>A AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Dec 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666840.5
Allele description [Variation Report for NM_002485.5(NBN):c.585-1G>A]
NM_002485.5(NBN):c.585-1G>A
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
-
Same Parent, Connectivity for PubChem Compound (Select 3569997) (6)
PubChem Compound
-
Gene Links for GEO Profiles (Select 110170963) (1)
Gene
-
GRID1 glutamate ionotropic receptor delta type subunit 1 [Homo sapiens]
GRID1 glutamate ionotropic receptor delta type subunit 1 [Homo sapiens]Gene ID:2894Gene
-
txid320028[Organism:exp] (6)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024