NM_000277.3(PAH):c.350del (p.Thr117fs) AND Phenylketonuria
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000106355.3
Allele description [Variation Report for NM_000277.3(PAH):c.350del (p.Thr117fs)]
NM_000277.3(PAH):c.350del (p.Thr117fs)
Condition(s)
-
PubChem Substance Links for Gene (Select 64856) (83)
PubChem Substance
-
Gene neighbors for Gene (Select 64856) (8)
Gene
-
Danio rerio kelch-like family member 18 (klhl18), mRNA
Danio rerio kelch-like family member 18 (klhl18), mRNAgi|41054164|ref|NM_199830.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024