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.241_256del (p.Thr81fs)
CA229499
102638 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 9c0824e1-2710-46f7-8a21-a59b73ada7a0
Approved on: 2020-10-22
Published on: 2020-10-22
HGVS expressions
NM_000277.3:c.241_256del
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
NM_000277.1:c.241_256del
NM_000277.2:c.241_256del
NM_001354304.1:c.241_256del
NM_001354304.2:c.241_256del
ENST00000307000.7:c.226_241del
ENST00000546844.1:c.241_256del
ENST00000548677.2:n.328_343del
ENST00000548928.1:n.163_178del
ENST00000549111.5:n.337_352del
ENST00000550978.6:n.225_240del
ENST00000551337.5:c.241_256del
ENST00000551988.5:n.330_345del
ENST00000553106.5:c.241_256del
NC_000012.12:g.102894832_102894847del
CM000674.2:g.102894832_102894847del
NC_000012.11:g.103288610_103288625del
CM000674.1:g.103288610_103288625del
NC_000012.10:g.101812740_101812755del
NG_008690.1:g.27757_27772del
NG_008690.2:g.68565_68580del
Evidence submitted by expert panel
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