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.
CA16020991
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 45709ecf-df80-4cd6-a255-b0a1392bc934
HGVS expressions
NM_001354304.2:c.1306del
NC_000012.12:g.102840410del
CM000674.2:g.102840410del
NC_000012.11:g.103234188del
CM000674.1:g.103234188del
NC_000012.10:g.101758318del
NG_008690.1:g.82194del
NG_008690.2:g.123002del
NM_000277.1:c.1306del
NM_000277.2:c.1306del
NM_001354304.1:c.1306del
NM_000277.3:c.1306del
ENST00000307000.7:c.1291del
ENST00000551114.2:n.968del
ENST00000553106.5:c.1306del
ENST00000635477.1:n.410del
ENST00000635528.1:n.821del
Evidence submitted by expert panel
Approved on: 2020-05-18
Published on: 2020-05-18
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