NM_000478.6(ALPL):c.962G>A (p.Arg321Gln) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002540257.2
Allele description [Variation Report for NM_000478.6(ALPL):c.962G>A (p.Arg321Gln)]
NM_000478.6(ALPL):c.962G>A (p.Arg321Gln)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Mus musculus ataxin 2-like (Atxn2l), transcript variant 3, mRNA
Mus musculus ataxin 2-like (Atxn2l), transcript variant 3, mRNAgi|2421800334|ref|NM_001361487.2|Nucleotide
-
Homo sapiens ataxin 2 related protein (A2LP), transcript variant 2, mRNA
Homo sapiens ataxin 2 related protein (A2LP), transcript variant 2, mRNAgi|9665244|ref|NM_017492.1|Nucleotide
-
probable arginine--tRNA ligase, mitochondrial isoform 1 precursor [Homo sapiens]
probable arginine--tRNA ligase, mitochondrial isoform 1 precursor [Homo sapiens]gi|197100773|ref|NP_064716.2|Protein
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Last Updated: Sep 29, 2024