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.
Variant: NM_000277.1(PAH):c.212G>A (p.Arg71His)
CA286499
102633 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 41f440f5-e9e9-4eb2-b622-59574cfefc61
Approved on: 2019-09-29
Published on: 2019-09-29
HGVS expressions
NM_000277.1:c.212G>A
NM_000277.1(PAH):c.212G>A (p.Arg71His)
NC_000012.12:g.102894875C>T
CM000674.2:g.102894875C>T
NC_000012.11:g.103288653C>T
CM000674.1:g.103288653C>T
NC_000012.10:g.101812783C>T
NG_008690.1:g.27728G>A
NG_008690.2:g.68536G>A
NM_000277.2:c.212G>A
NM_001354304.1:c.212G>A
NM_000277.3:c.212G>A
ENST00000307000.7:c.197G>A
ENST00000546844.1:c.212G>A
ENST00000548677.2:n.299G>A
ENST00000548928.1:n.134G>A
ENST00000549111.5:n.308G>A
ENST00000550978.6:n.196G>A
ENST00000551337.5:c.212G>A
ENST00000551988.5:n.301G>A
ENST00000553106.5:c.212G>A
ENST00000635500.1:n.180G>A
Evidence submitted by expert panel
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