NM_032638.5(GATA2):c.1018-19C>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002180349.6
Allele description [Variation Report for NM_032638.5(GATA2):c.1018-19C>A]
NM_032638.5(GATA2):c.1018-19C>A
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
-
Homo sapiens eukaryotic translation initiation factor 5A like 1 (EIF5AL1), mRNA
Homo sapiens eukaryotic translation initiation factor 5A like 1 (EIF5AL1), mRNAgi|1858589223|ref|NM_001099692.2|Nucleotide
-
LOC130067591 [Homo sapiens]
LOC130067591 [Homo sapiens]Gene ID:130067591Gene
-
sh2d5 [Morone saxatilis]
sh2d5 [Morone saxatilis]Gene ID:118328879Gene
-
SH2D5 [Bubalus bubalis]
SH2D5 [Bubalus bubalis]Gene ID:102398399Gene
-
JGI_CAAO6217.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone IMAGE:7702941 3',...
JGI_CAAO6217.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone IMAGE:7702941 3', mRNA sequencegi|58728538|gnl|dbEST|27645699|gb|C 80.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024