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.1055delG (p.Gly352Valfs)
CA229311
102498 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 65776af0-77ed-41ec-9999-612a44a636b2
Approved on: 2018-08-10
Published on: 2019-08-17
HGVS expressions
NM_000277.2:c.1055delG
NM_000277.2(PAH):c.1055delG (p.Gly352Valfs)
NC_000012.12:g.102844347del
CM000674.2:g.102844347del
NC_000012.11:g.103238125del
CM000674.1:g.103238125del
NC_000012.10:g.101762255del
NG_008690.1:g.78257del
NG_008690.2:g.119065del
NM_000277.1:c.1055del
NM_000277.2:c.1055del
NM_001354304.1:c.1055del
NM_000277.3:c.1055del
ENST00000307000.7:c.1040del
ENST00000549247.6:n.814del
ENST00000551114.2:n.717del
ENST00000553106.5:c.1055del
ENST00000635477.1:n.159del
ENST00000635528.1:n.570del
Evidence submitted by expert panel
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