NM_002485.5(NBN):c.794C>T (p.Ala265Val) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000204340.7
Allele description [Variation Report for NM_002485.5(NBN):c.794C>T (p.Ala265Val)]
NM_002485.5(NBN):c.794C>T (p.Ala265Val)
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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Homo sapiens regulatory factor X, 6, mRNA (cDNA clone MGC:33442 IMAGE:5272028), ...
Homo sapiens regulatory factor X, 6, mRNA (cDNA clone MGC:33442 IMAGE:5272028), complete cdsgi|24660189|gb|BC039248.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024