NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003114343.4
Allele description [Variation Report for NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)]
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
-
Homo sapiens biotinidase (BTD), transcript variant 3, mRNA
Homo sapiens biotinidase (BTD), transcript variant 3, mRNAgi|528524484|ref|NM_000060.3|Nucleotide
-
Homo sapiens RNA binding motif protein 8A (RBM8A), mRNA
Homo sapiens RNA binding motif protein 8A (RBM8A), mRNAgi|1780222572|ref|NM_005105.5|Nucleotide
-
Rattus norvegicus Rho guanine nucleotide exchange factor 11 (Arhgef11), mRNA
Rattus norvegicus Rho guanine nucleotide exchange factor 11 (Arhgef11), mRNAgi|2708436898|ref|NM_023982.3|Nucleotide
-
Staphylinidae sp. NZAC 03013936 voucher NZAC:03013936 cytochrome oxidase subunit...
Staphylinidae sp. NZAC 03013936 voucher NZAC:03013936 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|808155776|gb|KP421459.1|Nucleotide
-
Staphylinidae sp. NZAC 03013936 voucher NZAC:03013936 28S ribosomal RNA gene, pa...
Staphylinidae sp. NZAC 03013936 voucher NZAC:03013936 28S ribosomal RNA gene, partial sequencegi|983653472|gb|KT440281.1|Nucleotide
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Last Updated: Feb 20, 2024