NM_032638.5(GATA2):c.1018-19C>T AND Monocytopenia with susceptibility to infections
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001701812.10
Allele description [Variation Report for NM_032638.5(GATA2):c.1018-19C>T]
NM_032638.5(GATA2):c.1018-19C>T
Condition(s)
- 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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Salmonella enterica subsp. enterica Serovar Infantis strain:120100
Salmonella enterica subsp. enterica Serovar Infantis strain:120100Salmonella enterica subsp. enterica Serovar Infantis strain:120100 Genome sequencing and assemblyBioProject
-
Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogramMedGen
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dpoB [Phlebia radiata]
dpoB [Phlebia radiata]Gene ID:14469609Gene
-
atp9 [Phlebia radiata]
atp9 [Phlebia radiata]Gene ID:14469649Gene
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Homologene neighbors for GEO Profiles (Select 120952122) (0)
GEO Profiles
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Last Updated: Oct 26, 2024