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_000277.2(PAH):c.169G>A (p.Glu57Lys)
CA220578
92737 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 1afec1b2-0d05-412d-b7b8-5253350ff838
Approved on: 2019-04-26
Published on: 2019-04-26
HGVS expressions
NM_000277.2:c.169G>A
NM_000277.2(PAH):c.169G>A (p.Glu57Lys)
NC_000012.12:g.102894918C>T
CM000674.2:g.102894918C>T
NC_000012.11:g.103288696C>T
CM000674.1:g.103288696C>T
NC_000012.10:g.101812826C>T
NG_008690.1:g.27685G>A
NG_008690.2:g.68493G>A
NM_000277.1:c.169G>A
NM_001354304.1:c.169G>A
NM_000277.3:c.169G>A
ENST00000307000.7:c.154G>A
ENST00000546844.1:c.169G>A
ENST00000548677.2:n.256G>A
ENST00000548928.1:n.91G>A
ENST00000549111.5:n.265G>A
ENST00000550978.6:n.153G>A
ENST00000551337.5:c.169G>A
ENST00000551988.5:n.258G>A
ENST00000553106.5:c.169G>A
ENST00000635500.1:n.137G>A
Evidence submitted by expert panel
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