NM_001364905.1(LRBA):c.4462-13del AND Combined immunodeficiency due to LRBA deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002136908.5
Allele description [Variation Report for NM_001364905.1(LRBA):c.4462-13del]
NM_001364905.1(LRBA):c.4462-13del
Condition(s)
-
Chain B, RNA (47-MER)
Chain B, RNA (47-MER)gi|1048347870|pdb|5DCV|BNucleotide
-
Homo sapiens zinc finger with KRAB and SCAN domains 8 (ZKSCAN8), transcript vari...
Homo sapiens zinc finger with KRAB and SCAN domains 8 (ZKSCAN8), transcript variant 3, mRNAgi|1890333904|ref|NM_001278121.2|Nucleotide
-
T-box brain 1, partial [Sewellia lineolata]
T-box brain 1, partial [Sewellia lineolata]gi|973694186|gb|ALX40641.1|Protein
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Last Updated: Feb 28, 2024