NM_001367916.1(MAGT1):c.644A>G (p.Asn215Ser) AND X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003096181.2
-
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndromeMedGen
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C5568143[conceptid] (1)
MedGen
-
Solute Carrier Family 12, Member 4
Solute Carrier Family 12, Member 4K-Cl cotransporter ubiquitously expressed with higher expression levels in ERYTHROCYTES of ANEMIA, SICKLE CELL. It mediates active potassium and chloride cotransport across th...<br/>Year introduced: 2014MeSH
-
Solute Carrier Proteins
Solute Carrier ProteinsA large diverse group of membrane transport proteins whose families are generally classified according to function. Most SLCs localize to the CELL MEMBRANE; however, some fami...<br/>Year introduced: 2017MeSH
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024