NM_000277.3(PAH):c.1108del (p.Glu370fs) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003388798.2
Allele description [Variation Report for NM_000277.3(PAH):c.1108del (p.Glu370fs)]
NM_000277.3(PAH):c.1108del (p.Glu370fs)
Condition(s)
-
CHST9 [Hyaena hyaena]
CHST9 [Hyaena hyaena]Gene ID:120220443Gene
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024