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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- See Evidence submitted by expert panel for details.
CA16020849
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: b8a375eb-ab64-4ae6-9596-fb9df15defac
HGVS expressions
NM_001354304.2:c.740del
NM_000277.1:c.739del
NM_000277.2:c.739del
NM_001354304.1:c.739del
NM_000277.3:c.739del
NM_001354304.2:c.739del
ENST00000307000.7:c.724del
ENST00000549247.6:n.498del
ENST00000553106.5:c.739del
NC_000012.12:g.102852917del
CM000674.2:g.102852917del
NC_000012.11:g.103246695del
CM000674.1:g.103246695del
NC_000012.10:g.101770825del
NG_008690.1:g.69685del
NG_008690.2:g.110493del
Evidence submitted by expert panel
Approved on: 2020-11-24
Published on: 2021-01-15
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