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.1199+2T>G
CA386493122
557365 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: aff3b507-bd03-45fe-b78b-3ee286c8f0f4
Approved on: 2023-03-16
Published on: 2023-03-16
HGVS expressions
NM_000277.3:c.1199+2T>G
NM_000277.3(PAH):c.1199+2T>G
NC_000012.12:g.102843644A>C
CM000674.2:g.102843644A>C
NC_000012.11:g.103237422A>C
CM000674.1:g.103237422A>C
NC_000012.10:g.101761552A>C
NG_008690.1:g.78959T>G
NG_008690.2:g.119767T>G
ENST00000553106.6:c.1199+2T>G
ENST00000307000.7:c.1184+2T>G
ENST00000549247.6:n.958+2T>G
ENST00000551114.2:n.861+2T>G
ENST00000553106.5:c.1199+2T>G
ENST00000635477.1:n.303+2T>G
ENST00000635528.1:n.714+2T>G
NM_000277.1:c.1199+2T>G
NM_000277.2:c.1199+2T>G
NM_001354304.1:c.1199+2T>G
NM_001354304.2:c.1199+2T>G
Evidence submitted by expert panel
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