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_000277.3(PAH):c.1163_1164del (p.Val388fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA229367
102542 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: e230cc01-bee4-4942-9bba-4fa4aa43f05d
Approved on: 2020-10-29
Published on: 2020-10-29
HGVS expressions
NM_000277.3:c.1163_1164del
NM_000277.3(PAH):c.1163_1164del (p.Val388fs)
NM_000277.1:c.1163_1164del
NM_000277.2:c.1163_1164del
NM_001354304.1:c.1163_1164del
NM_001354304.2:c.1163_1164del
ENST00000307000.7:c.1148_1149del
ENST00000549247.6:n.922_923del
ENST00000551114.2:n.825_826del
ENST00000553106.5:c.1163_1164del
ENST00000635477.1:n.267_268del
ENST00000635528.1:n.678_679del
NC_000012.12:g.102843682_102843683del
CM000674.2:g.102843682_102843683del
NC_000012.11:g.103237460_103237461del
CM000674.1:g.103237460_103237461del
NC_000012.10:g.101761590_101761591del
NG_008690.1:g.78921_78922del
NG_008690.2:g.119729_119730del
More
Evidence submitted by expert panel
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