NM_001082971.2(DDC):c.316-5G>C AND Deficiency of aromatic-L-amino-acid decarboxylase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001160237.8
Allele description [Variation Report for NM_001082971.2(DDC):c.316-5G>C]
NM_001082971.2(DDC):c.316-5G>C
Condition(s)
-
PREDICTED: Rattus norvegicus tRNA methyltransferase 44 (Trmt44), transcript vari...
PREDICTED: Rattus norvegicus tRNA methyltransferase 44 (Trmt44), transcript variant X2, mRNAgi|2678895131|ref|XM_063273151.1|Nucleotide
-
probable tRNA (uracil-O(2)-)-methyltransferase isoform X3 [Rattus norvegicus]
probable tRNA (uracil-O(2)-)-methyltransferase isoform X3 [Rattus norvegicus]gi|1958676070|ref|XP_038947893.1|Protein
-
Homo sapiens activin A receptor type 1 (ACVR1), transcript variant 6, mRNA
Homo sapiens activin A receptor type 1 (ACVR1), transcript variant 6, mRNAgi|1111244443|ref|NM_001347666.1|Nucleotide
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Schistocerca obscura]
cytochrome c oxidase subunit I, partial (mitochondrion) [Schistocerca obscura]gi|314907696|gb|ADT62057.1|Protein
-
Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone MGC:75177 IMA...
Homo sapiens coenzyme Q9 homolog (S. cerevisiae), mRNA (cDNA clone MGC:75177 IMAGE:6023461), complete cdsgi|40674462|gb|BC064946.1|Nucleotide
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Last Updated: Sep 29, 2024