NM_000277.3(PAH):c.1065+20C>A AND Phenylketonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003496838.2
Allele description [Variation Report for NM_000277.3(PAH):c.1065+20C>A]
NM_000277.3(PAH):c.1065+20C>A
Condition(s)
-
adenosylhomocysteinase [Pseudomonas mendocina ymp]
adenosylhomocysteinase [Pseudomonas mendocina ymp]gi|145573687|gnl|jgi|Pmen_0449|gb|A 19.1|Protein
-
paired box gene 4, isoform CRA_b [Homo sapiens]
paired box gene 4, isoform CRA_b [Homo sapiens]gi|119604040|gb|EAW83634.1||gnl|WGS |hCP46529Protein
-
paired box gene 4, isoform CRA_a, partial [Homo sapiens]
paired box gene 4, isoform CRA_a, partial [Homo sapiens]gi|119604039|gb|EAW83633.1||gnl|WGS |hCP1904986Protein
-
Homo sapiens PAPST1 mRNA for adenosine 3'-phospho 5'-phosphosulfate (PAPS) trans...
Homo sapiens PAPST1 mRNA for adenosine 3'-phospho 5'-phosphosulfate (PAPS) transporter, complete cdsgi|32480470|dbj|AB106538.1|Nucleotide
-
Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 24, mRNA
Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 24, mRNAgi|1789691076|ref|NM_001374647.2|Nucleotide
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Last Updated: Sep 29, 2024