NM_000277.3(PAH):c.204A>T (p.Arg68Ser) AND Phenylketonuria
- Germline classification:
- Pathogenic (7 submissions)
- Last evaluated:
- Jul 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000150091.35
Allele description [Variation Report for NM_000277.3(PAH):c.204A>T (p.Arg68Ser)]
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
Condition(s)
-
Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce hom...
Homo sapiens phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila), mRNA (cDNA clone IMAGE:4393859)gi|28279303|gb|BC046161.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5262278, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5262278, containing frame-shift errorsgi|47939494|gb|BC071607.1|Nucleotide
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Last Updated: Oct 13, 2024