NM_032638.5(GATA2):c.279G>A (p.Pro93=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001079610.2
Allele description
NM_032638.5(GATA2):c.279G>A (p.Pro93=)
Condition(s)
- Name:
- Deafness-lymphedema-leukemia syndrome
- Synonyms:
- Lymphedema, primary, with myelodysplasia; Emberger syndrome
- Identifiers:
- MONDO: MONDO:0013540; MedGen: C3279664; Orphanet: 3226; OMIM: 614038
- Name:
- Monocytopenia with susceptibility to infections
- Synonyms:
- MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013607; MedGen: C3280030; Orphanet: 228423; OMIM: 614172
-
Mycobacterium tuberculosis TKK_04_0107
Mycobacterium tuberculosis TKK_04_0107TB-ARC - KRITH 2BioProject
-
Gallus gallus angiopoietin like 3 (ANGPTL3), mRNA
Gallus gallus angiopoietin like 3 (ANGPTL3), mRNAgi|205361181|ref|NM_001135122.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022