NM_002485.5(NBN):c.1222A>T (p.Lys408Ter) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003618081.1
Allele description [Variation Report for NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)]
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
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
-
eggc.vip0k2 (0)
BioProject
-
eggcsite.comarg (0)
BioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024