NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) AND Leukocyte adhesion deficiency 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000087109.3
Allele description [Variation Report for NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)]
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)
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
-
transferrin-binding protein 1 TbpA [Mannheimia haemolytica M42548]
transferrin-binding protein 1 TbpA [Mannheimia haemolytica M42548]gi|481065963|gnl|goetting|MHH_c2751 AGK03179.1|Protein
-
JGI_XZG4164.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7521468 3',...
JGI_XZG4164.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7521468 3', mRNA sequencegi|57359089|gnl|dbEST|27091917|gb|C 56.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023