The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000277.2(PAH):c.1357_*2delTAAAG (p.Ter453Profs)
194161 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: dd07cd11-a480-4024-b568-1aabf10c6428
Approved on: 2023-07-23
Published on: 2023-07-23
HGVS expressions
NM_000277.2:c.1357_*2delTAAAG
NM_000277.2(PAH):c.1357_*2delTAAAG (p.Ter453Profs)
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
Evidence submitted by expert panel
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