NM_000277.3(PAH):c.838G>A (p.Glu280Lys) AND Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003162201.8
Allele description [Variation Report for NM_000277.3(PAH):c.838G>A (p.Glu280Lys)]
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
Condition(s)
-
Neurodevelopmental abnormality
Neurodevelopmental abnormalityMedGen
-
C4022737[conceptid] (1)
MedGen
-
PubChem BioAssay Links for Taxonomy (Select 659) (3)
PubChem BioAssay
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See more...Assertion and evidence details
Last Updated: Nov 10, 2024