NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001037286.8
Allele description [Variation Report for NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr)]
NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr)
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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Tylomelania baskasti voucher ZMB 190534_6 NADH dehydrogenase subunit 5 (ND5) gen...
Tylomelania baskasti voucher ZMB 190534_6 NADH dehydrogenase subunit 5 (ND5) gene, complete cds; mitochondrialgi|2704298538|gb|PP532595.1|Nucleotide
-
Tylomelania inconspicua voucher ZMB 190676_4 cytochrome oxidase subunit 2 (COX2)...
Tylomelania inconspicua voucher ZMB 190676_4 cytochrome oxidase subunit 2 (COX2) gene, complete cds; mitochondrialgi|2704297230|gb|PP531941.1|Nucleotide
-
Tylomelania baskasti voucher ZMB 190534_6 NADH dehydrogenase subunit 1 (ND1) gen...
Tylomelania baskasti voucher ZMB 190534_6 NADH dehydrogenase subunit 1 (ND1) gene, complete cds; mitochondrialgi|2704297768|gb|PP532210.1|Nucleotide
-
cytochrome oxidase subunit 2 (mitochondrion) [Tylomelania sinabartfeldi]
cytochrome oxidase subunit 2 (mitochondrion) [Tylomelania sinabartfeldi]gi|2704297283|gb|WXX01275.1|Protein
-
LOC110438035 [Danio rerio]
LOC110438035 [Danio rerio]Gene ID:110438035Gene
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Last Updated: Sep 29, 2024