NM_032638.5(GATA2):c.1359G>A (p.Leu453=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000231179.9
Allele description [Variation Report for NM_032638.5(GATA2):c.1359G>A (p.Leu453=)]
NM_032638.5(GATA2):c.1359G>A (p.Leu453=)
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
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Homologene neighbors for GEO Profiles (Select 78975408) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 78975408) (20)
GEO Profiles
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FAM66D family with sequence similarity 66 member D [Homo sapiens]
FAM66D family with sequence similarity 66 member D [Homo sapiens]Gene ID:100132923Gene
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Gene Links for GEO Profiles (Select 109415875) (1)
Gene
-
Homo sapiens chemokine like factor (CKLF), transcript variant 1, mRNA
Homo sapiens chemokine like factor (CKLF), transcript variant 1, mRNAgi|1779541938|ref|NM_016951.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024