NM_002485.5(NBN):c.251A>G (p.Gln84Arg) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- May 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001800798.6
Allele description [Variation Report for NM_002485.5(NBN):c.251A>G (p.Gln84Arg)]
NM_002485.5(NBN):c.251A>G (p.Gln84Arg)
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
-
Homo sapiens KIAA1958 (KIAA1958), transcript variant 2, mRNA
Homo sapiens KIAA1958 (KIAA1958), transcript variant 2, mRNAgi|1677501129|ref|NM_133465.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024