NM_032638.5(GATA2):c.1018-11T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002894247.3
Allele description [Variation Report for NM_032638.5(GATA2):c.1018-11T>C]
NM_032638.5(GATA2):c.1018-11T>C
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
-
Mus musculus leucine-rich repeats and IQ motif containing 1 (Lrriq1), transcript...
Mus musculus leucine-rich repeats and IQ motif containing 1 (Lrriq1), transcript variant 2, mRNAgi|254675134|ref|NM_029134.2|Nucleotide
-
JGI_XZT1332.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT1332 5', mRNA ...
JGI_XZT1332.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT1332 5', mRNA sequencegi|57129032|gnl|dbEST|26982337|gb|C 73.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024