NM_002485.5(NBN):c.800dup (p.Thr268fs) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001800841.7
Allele description [Variation Report for NM_002485.5(NBN):c.800dup (p.Thr268fs)]
NM_002485.5(NBN):c.800dup (p.Thr268fs)
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 cDNA clone IMAGE:30339331, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:30339331, containing frame-shift errorsgi|62205248|gb|BC093006.1|Nucleotide
-
Salmonella enterica subsp. enterica serovar 6.8:eh:- strain BCW_2769 NODE_1306_l...
Salmonella enterica subsp. enterica serovar 6.8:eh:- strain BCW_2769 NODE_1306_length_517_cov_0.704651, whole genome shotgun sequencegi|1166369284|gb|MXZW01001306.1||gn :MXZW01|NODE_1306_length_517_cov_0.704651Nucleotide
-
Clinostomum album isolate C-2 nicotinamide adenine dinucleotide dehydrogenase su...
Clinostomum album isolate C-2 nicotinamide adenine dinucleotide dehydrogenase subunit 1 (nad1) gene, partial cds; mitochondrialgi|1407934051|gb|MH282526.1|Nucleotide
-
Helicobacter pylori strain MHP51 accn210.5591.1313_38418_cov_14.52651210.5591, w...
Helicobacter pylori strain MHP51 accn210.5591.1313_38418_cov_14.52651210.5591, whole genome shotgun sequencegi|1783736576|ref|NZ_WACV01000013.1 |WGS:NZ_WACV01|accn210.5591.1313_38418_cov_14.52651210.5591Nucleotide
-
Helicobacter pylori strain MHP51 accn210.5591.4040_789_cov_27.019151210.5591, wh...
Helicobacter pylori strain MHP51 accn210.5591.4040_789_cov_27.019151210.5591, whole genome shotgun sequencegi|1783736603|ref|NZ_WACV01000040.1 |WGS:NZ_WACV01|accn210.5591.4040_789_cov_27.019151210.5591Nucleotide
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Last Updated: Sep 1, 2024