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.
CA16020766
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 893a2c5e-12c2-4906-b639-8dcd2aadf73d
Approved on: 2020-10-15
Published on: 2020-10-15
HGVS expressions
NM_001354304.2:c.324_328del
NM_000277.1:c.324_328del
NM_000277.2:c.324_328del
NM_001354304.1:c.324_328del
NM_000277.3:c.324_328del
ENST00000307000.7:c.309_313del
ENST00000546844.1:c.324_328del
ENST00000548928.1:n.246_250del
ENST00000549111.5:n.420_424del
ENST00000550978.6:n.308_312del
ENST00000551337.5:c.324_328del
ENST00000551988.5:n.413_417del
ENST00000553106.5:c.324_328del
NC_000012.12:g.102894759_102894763del
CM000674.2:g.102894759_102894763del
NC_000012.11:g.103288537_103288541del
CM000674.1:g.103288537_103288541del
NC_000012.10:g.101812667_101812671del
NG_008690.1:g.27840_27844del
NG_008690.2:g.68648_68652del
Evidence submitted by expert panel
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