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_000277.3(PAH):c.353-7_353-5dup
CA607158216
552806 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 3b55f0dd-a124-4ea0-bba1-761b9e0cda01
Approved on: 2023-07-23
Published on: 2023-07-23
HGVS expressions
NM_000277.3:c.353-7_353-5dup
NM_000277.3:c.353-7_353-5dupGTT
NM_000277.3(PAH):c.353-7_353-5dup
NC_000012.12:g.102877556_102877558dup
CM000674.2:g.102877556_102877558dup
NC_000012.11:g.103271334_103271336dup
CM000674.1:g.103271334_103271336dup
NC_000012.10:g.101795464_101795466dup
NG_008690.1:g.45046_45048dup
NG_008690.2:g.85854_85856dup
ENST00000553106.6:c.353-7_353-5dup
ENST00000307000.7:c.338-7_338-5dup
ENST00000549111.5:n.449-7_449-5dup
ENST00000550978.6:n.337-7_337-5dup
ENST00000551337.5:c.353-7_353-5dup
ENST00000551988.5:n.442-7_442-5dup
ENST00000553106.5:c.353-7_353-5dup
NM_000277.1:c.353-7_353-5dup
NM_000277.2:c.353-7_353-5dup
NM_001354304.1:c.353-7_353-5dup
NM_001354304.2:c.353-7_353-5dup
Evidence submitted by expert panel
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