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_000277.3(PAH):c.822_832del (p.Lys274fs)
CA229788
102852 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 9792fda2-ee97-4970-88ff-83689c4e9689
HGVS expressions
NM_000277.3:c.822_832del
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
NC_000012.12:g.102852826_102852836del
CM000674.2:g.102852826_102852836del
NC_000012.11:g.103246604_103246614del
CM000674.1:g.103246604_103246614del
NC_000012.10:g.101770734_101770744del
NG_008690.1:g.69768_69778del
NG_008690.2:g.110576_110586del
NM_000277.1:c.822_832del
NM_000277.2:c.822_832del
NM_001354304.1:c.822_832del
NM_001354304.2:c.822_832del
ENST00000307000.7:c.807_817del
ENST00000549247.6:n.581_591del
ENST00000553106.5:c.822_832del
Evidence submitted by expert panel
Approved on: 2020-04-05
Published on: 2020-04-06
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