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.169_171delGAG (p.Glu57del)
CA229461
102613 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 322ad14d-14cd-4966-a70d-b6f5fb632418
HGVS expressions
NM_000277.2:c.169_171del
NM_000277.2(PAH):c.169_171delGAG (p.Glu57del)
NC_000012.12:g.102894918_102894920del
CM000674.2:g.102894918_102894920del
NC_000012.11:g.103288696_103288698del
CM000674.1:g.103288696_103288698del
NC_000012.10:g.101812826_101812828del
NG_008690.1:g.27685_27687del
NG_008690.2:g.68493_68495del
NM_000277.1:c.169_171del
NM_001354304.1:c.169_171del
NM_000277.3:c.169_171del
ENST00000307000.7:c.154_156del
ENST00000546844.1:c.169_171del
ENST00000548677.2:n.256_258del
ENST00000548928.1:n.91_93del
ENST00000549111.5:n.265_267del
ENST00000550978.6:n.153_155del
ENST00000551337.5:c.169_171del
ENST00000551988.5:n.258_260del
ENST00000553106.5:c.169_171del
ENST00000635500.1:n.137_139del
Evidence submitted by expert panel
Approved on: 2019-08-26
Published on: 2019-08-26
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