NM_006516.4(SLC2A1):c.1075-15C>T AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003849237.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.1075-15C>T]
NM_006516.4(SLC2A1):c.1075-15C>T
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
-
Anemia, Refractory
Anemia, RefractoryA severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.<br/>Year introduced: 1986MeSH
-
MeSH for MedGen (Select 286) (1)
MeSH
-
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript va...
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X22, mRNAgi|2462514493|ref|XM_054339173.1|Nucleotide
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Injection Site Thrombophlebitis
Injection Site ThrombophlebitisMedGen
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Last Updated: Mar 5, 2024