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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Variant: NM_000277.2(PAH):c.806delT (p.Ile269Thrfs)
CA229778
102844 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: f5d8dc3f-dba0-4dc9-98cd-4a22b6a11a83
HGVS expressions
NM_000277.2:c.806delT
NM_000277.2(PAH):c.806delT (p.Ile269Thrfs)
NC_000012.12:g.102852851del
CM000674.2:g.102852851del
NC_000012.11:g.103246629del
CM000674.1:g.103246629del
NC_000012.10:g.101770759del
NG_008690.1:g.69752del
NG_008690.2:g.110560del
NM_000277.1:c.806del
NM_000277.2:c.806del
NM_001354304.1:c.806del
NM_000277.3:c.806del
ENST00000307000.7:c.791del
ENST00000549247.6:n.565del
ENST00000553106.5:c.806del
Evidence submitted by expert panel
Approved on: 2018-08-10
Published on: 2019-08-17
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