NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003072637.3
Allele description [Variation Report for NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)]
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
Condition(s)
-
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