NM_002485.5(NBN):c.2012A>C (p.Asn671Thr) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001875518.3
Allele description [Variation Report for NM_002485.5(NBN):c.2012A>C (p.Asn671Thr)]
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr)
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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malate synthase [Rhodococcus erythropolis PR4]
malate synthase [Rhodococcus erythropolis PR4]gi|226185821|dbj|BAH33925.1|Protein
-
Ttc12 tetratricopeptide repeat domain 12 [Mus musculus]
Ttc12 tetratricopeptide repeat domain 12 [Mus musculus]Gene ID:235330Gene
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(ttc12[gene]) AND (Mus musculus[orgn]) AND alive[prop] NOT newent... (1)
(ttc12[gene]) AND (Mus musculus[orgn]) AND alive[prop] NOT newentry[gene] AND (alive[prop])SearchGene
-
Mytilus galloprovincialis MGL-2 mRNA for lysozyme 2, complete cds
Mytilus galloprovincialis MGL-2 mRNA for lysozyme 2, complete cdsgi|148524899|dbj|AB298451.1|Nucleotide
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Preprotein translocase secY subunit [Mycobacteroides abscessus ATCC 19977]
Preprotein translocase secY subunit [Mycobacteroides abscessus ATCC 19977]gi|169242831|emb|CAM63859.1|Protein
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Last Updated: Feb 20, 2024