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_000277.2(PAH):c.284_285delTCinsCA (p.Ile95Thr)
CA267649
120272 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 96dba265-41ce-4b51-b2b1-0774513e21ac
Approved on: 2020-01-25
Published on: 2020-01-25
HGVS expressions
NM_000277.2:c.284_285delTCinsCA
NM_000277.2(PAH):c.284_285delTCinsCA (p.Ile95Thr)
NC_000012.12:g.102894802_102894803delinsTG
CM000674.2:g.102894802_102894803delinsTG
NC_000012.11:g.103288580_103288581delinsTG
CM000674.1:g.103288580_103288581delinsTG
NC_000012.10:g.101812710_101812711delinsTG
NG_008690.1:g.27800_27801delinsCA
NG_008690.2:g.68608_68609delinsCA
NM_000277.1:c.284_285delinsCA
NM_000277.2:c.284_285delinsCA
NM_001354304.1:c.284_285delinsCA
NM_000277.3:c.284_285delinsCA
NM_001354304.2:c.284_285delinsCA
ENST00000307000.7:c.269_270delinsCA
ENST00000546844.1:c.284_285delinsCA
ENST00000548677.2:n.371_372delinsCA
ENST00000548928.1:n.206_207delinsCA
ENST00000549111.5:n.380_381delinsCA
ENST00000550978.6:n.268_269delinsCA
ENST00000551337.5:c.284_285delinsCA
ENST00000551988.5:n.373_374delinsCA
ENST00000553106.5:c.284_285delinsCA
Evidence submitted by expert panel
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