The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- See Evidence submitted by expert panel for details.
Variant: NM_000277.3(PAH):c.1166del (p.Ala389fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA229368
102543 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 05835628-828f-4c31-a626-188c98818f83
Approved on: 2020-10-29
Published on: 2020-10-29
HGVS expressions
NM_000277.3:c.1166del
NM_000277.3(PAH):c.1166del (p.Ala389fs)
NC_000012.12:g.102843679del
CM000674.2:g.102843679del
NC_000012.11:g.103237457del
CM000674.1:g.103237457del
NC_000012.10:g.101761587del
NG_008690.1:g.78924del
NG_008690.2:g.119732del
NM_000277.1:c.1166del
NM_000277.2:c.1166del
NM_001354304.1:c.1166del
NM_001354304.2:c.1166del
ENST00000307000.7:c.1151del
ENST00000549247.6:n.925del
ENST00000551114.2:n.828del
ENST00000553106.5:c.1166del
ENST00000635477.1:n.270del
ENST00000635528.1:n.681del
More
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.