NM_032638.5(GATA2):c.208G>T (p.Val70Phe) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000555700.11
Allele description [Variation Report for NM_032638.5(GATA2):c.208G>T (p.Val70Phe)]
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)
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
-
At.66953 AND (alive[prop]) (2)
Gene
-
Rattus norvegicus cullin-associated and neddylation-dissociated 2 (putative) (Ca...
Rattus norvegicus cullin-associated and neddylation-dissociated 2 (putative) (Cand2), mRNAgi|1937912636|ref|NM_181362.2|Nucleotide
-
AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mR...
AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mRNA sequencegi|111601729|gnl|dbEST|40942470|gb| 024.1|Nucleotide
-
OT_ostta13g03090 [Ostreococcus tauri]
OT_ostta13g03090 [Ostreococcus tauri]Gene ID:34946351Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024