NM_000211.5(ITGB2):c.525C>T (p.Thr175=) AND Leukocyte adhesion deficiency 1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000960507.14
Allele description [Variation Report for NM_000211.5(ITGB2):c.525C>T (p.Thr175=)]
NM_000211.5(ITGB2):c.525C>T (p.Thr175=)
Condition(s)
- Name:
- Leukocyte adhesion deficiency 1 (LAD1)
- Synonyms:
- LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD 1; Lymphocyte function-associated antigen 1 immunodeficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007293; MedGen: C0398738; Orphanet: 2968; Orphanet: 99842; OMIM: 116920
-
NADH dehydrogenase (ubiquinone) 42 kDa subunit, isoform B [Drosophila melanogast...
NADH dehydrogenase (ubiquinone) 42 kDa subunit, isoform B [Drosophila melanogaster]gi|24648886|ref|NP_732692.1|Protein
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ITPKB inositol-trisphosphate 3-kinase B [Homo sapiens]
ITPKB inositol-trisphosphate 3-kinase B [Homo sapiens]Gene ID:3707Gene
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3707[uid] AND (alive[prop]) (1)
Gene
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Last Updated: May 19, 2024