NM_000277.3(PAH):c.157C>T (p.Arg53Cys) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- May 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000664566.9
Allele description [Variation Report for NM_000277.3(PAH):c.157C>T (p.Arg53Cys)]
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
Condition(s)
-
proton translocating transhydrogenase subunit alpha 2 [uncultured organism MedDC...
proton translocating transhydrogenase subunit alpha 2 [uncultured organism MedDCM-OCT-S04-C478]gi|291336539|gb|ADD96089.1|Protein
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Last Updated: Oct 13, 2024