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.721C>T (p.Arg241Cys)
CA273357
102803 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: dd8fcc3c-dde1-42d4-a0f2-31bbafa786a5
Approved on: 2018-08-10
Published on: 2019-04-05
HGVS expressions
NM_000277.1:c.721C>T
NM_000277.1(PAH):c.721C>T (p.Arg241Cys)
NC_000012.12:g.102852936G>A
CM000674.2:g.102852936G>A
NC_000012.11:g.103246714G>A
CM000674.1:g.103246714G>A
NC_000012.10:g.101770844G>A
NG_008690.1:g.69667C>T
NG_008690.2:g.110475C>T
NM_000277.2:c.721C>T
NM_001354304.1:c.721C>T
NM_000277.3:c.721C>T
ENST00000307000.7:c.706C>T
ENST00000549247.6:n.480C>T
ENST00000553106.5:c.721C>T
Evidence submitted by expert panel
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