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.1223G>A (p.Arg408Gln)
CA229404
612 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: f5c357c3-eebd-4738-b8e9-b9c74e4aa9f4
Approved on: 2018-08-05
Published on: 2019-04-05
HGVS expressions
NM_000277.1:c.1223G>A
NM_000277.1(PAH):c.1223G>A (p.Arg408Gln)
NC_000012.12:g.102840492C>T
CM000674.2:g.102840492C>T
NC_000012.11:g.103234270C>T
CM000674.1:g.103234270C>T
NC_000012.10:g.101758400C>T
NG_008690.1:g.82111G>A
NG_008690.2:g.122919G>A
NM_000277.2:c.1223G>A
NM_001354304.1:c.1223G>A
NM_000277.3:c.1223G>A
ENST00000307000.7:c.1208G>A
ENST00000551114.2:n.885G>A
ENST00000553106.5:c.1223G>A
ENST00000635477.1:n.327G>A
ENST00000635528.1:n.738G>A
Evidence submitted by expert panel
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