The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- See Evidence submitted by expert panel for details.
Variant: NM_001354304.2:c.510-735_912+434del
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA916084430
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 9c21c34e-abd4-41c0-bf30-c1cedc8e886e
Approved on: 2020-06-05
Published on: 2021-03-21
HGVS expressions
NM_001354304.2:c.510-735_912+434del
NC_000012.12:g.102851253_102856067del
CM000674.2:g.102851253_102856067del
NC_000012.11:g.103245031_103249845del
CM000674.1:g.103245031_103249845del
NC_000012.10:g.101769161_101773975del
NG_008690.2:g.107344_112158del
ENST00000553106.6:c.510-735_912+434del
ENST00000307000.7:c.495-735_897+434del
ENST00000553106.5:c.510-735_912+434del
NM_000277.2:c.510-735_912+434del
NM_001354304.1:c.510-735_912+434del
NM_000277.3:c.510-735_912+434del
More
Evidence submitted by expert panel
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