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_000277.2(PAH):c.533A>G (p.Glu178Gly)
CA273110
92746 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 9cbb36d6-2daf-4507-b947-3a692ec4d9e7
HGVS expressions
NM_000277.2:c.533A>G
NM_000277.2(PAH):c.533A>G (p.Glu178Gly)
NC_000012.12:g.102855309T>C
CM000674.2:g.102855309T>C
NC_000012.11:g.103249087T>C
CM000674.1:g.103249087T>C
NC_000012.10:g.101773217T>C
NG_008690.1:g.67294A>G
NG_008690.2:g.108102A>G
NM_000277.1:c.533A>G
NM_001354304.1:c.533A>G
NM_000277.3:c.533A>G
ENST00000307000.7:c.518A>G
ENST00000549111.5:n.629A>G
ENST00000551988.5:n.554A>G
ENST00000553106.5:c.533A>G
Evidence submitted by expert panel
Approved on: 2018-08-10
Published on: 2019-04-06
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