NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004039369.1
Allele description [Variation Report for NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)]
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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PREDICTED: Homo sapiens solute carrier family 1 member 3 (SLC1A3), transcript va...
PREDICTED: Homo sapiens solute carrier family 1 member 3 (SLC1A3), transcript variant X3, mRNAgi|2462603774|ref|XM_054353191.1|Nucleotide
-
Taxonomy Links for Nucleotide (Select 1676318561) (1)
Taxonomy
-
excitatory amino acid transporter 1 isoform 1 [Homo sapiens]
excitatory amino acid transporter 1 isoform 1 [Homo sapiens]gi|169790839|ref|NP_004163.3|Protein
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Conserved Domain Links for Protein (Select 2462603775) (1)
Conserved Domains
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Homo sapiens solute carrier family 1 member 3 (SLC1A3), RefSeqGene on chromosome...
Homo sapiens solute carrier family 1 member 3 (SLC1A3), RefSeqGene on chromosome 5gi|269308196|ref|NG_015890.1|Nucleotide
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Last Updated: Sep 29, 2024