NM_032638.5(GATA2):c.508C>A (p.Leu170Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001223309.6
Allele description [Variation Report for NM_032638.5(GATA2):c.508C>A (p.Leu170Ile)]
NM_032638.5(GATA2):c.508C>A (p.Leu170Ile)
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
-
BioSample Submission for Pancreas-U.Miami-4197 Islets
BioSample Submission for Pancreas-U.Miami-4197 Isletsbiosample
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SAMN12274306 (1)
BioSample
-
Homo sapiens sorting nexin 19 (SNX19), transcript variant 8, mRNA
Homo sapiens sorting nexin 19 (SNX19), transcript variant 8, mRNAgi|1122781540|ref|NM_001347923.1|Nucleotide
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PREDICTED: Pan paniscus claudin 4 (CLDN4), mRNA
PREDICTED: Pan paniscus claudin 4 (CLDN4), mRNAgi|931574143|ref|XM_008968522.2|Nucleotide
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Bifidobacterium tissieri strain MRM_5.18 Hsp60 (hsp60) gene, partial cds
Bifidobacterium tissieri strain MRM_5.18 Hsp60 (hsp60) gene, partial cdsgi|768803620|gb|KP732526.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024