NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001200015.1
Allele description [Variation Report for NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)]
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)
Condition(s)
-
UROD uroporphyrinogen decarboxylase [Gallus gallus]
UROD uroporphyrinogen decarboxylase [Gallus gallus]Gene ID:424590Gene
-
424590[uid] AND (alive[prop]) (1)
Gene
-
10732[uid] AND (alive[prop]) (1)
Gene
-
TCFL5 transcription factor like 5 [Homo sapiens]
TCFL5 transcription factor like 5 [Homo sapiens]Gene ID:10732Gene
-
NDUFAB1 [Macaca fascicularis]
NDUFAB1 [Macaca fascicularis]Gene ID:101866670Gene
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Last Updated: Apr 23, 2022