NM_000211.5(ITGB2):c.1224+18G>T AND Leukocyte adhesion deficiency 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002083255.6
Allele description [Variation Report for NM_000211.5(ITGB2):c.1224+18G>T]
NM_000211.5(ITGB2):c.1224+18G>T
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
-
SRX4066021 (1)
SRA
-
SRX6827633 (1)
SRA
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Last Updated: Sep 29, 2024