NM_032638.5(GATA2):c.1017+537A>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002169716.6
Allele description [Variation Report for NM_032638.5(GATA2):c.1017+537A>G]
NM_032638.5(GATA2):c.1017+537A>G
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
-
AGENCOURT_103367881 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:896...
AGENCOURT_103367881 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:8961409 5', mRNA sequencegi|126528667|gnl|dbEST|45046668|gb| 392.1|Nucleotide
-
JGI_CABD12679.rev NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone CABD12679 3', m...
JGI_CABD12679.rev NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone CABD12679 3', mRNA sequencegi|59740699|gnl|dbEST|27806552|gb|D 27.1|Nucleotide
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Last Updated: Sep 29, 2024