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 CSPEC related information was provided by the message!
- See Evidence submitted by expert panel for details.
Variant: NM_000277.3(PAH):c.1316-2A>G
CA6748680
439226 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 09e65aa4-05ec-4490-92e7-d382834e932a
Approved on: 2022-12-09
Published on: 2023-12-30
HGVS expressions
NM_000277.3:c.1316-2A>G
NM_000277.3(PAH):c.1316-2A>G
NC_000012.12:g.102839220T>C
CM000674.2:g.102839220T>C
NC_000012.11:g.103232998T>C
CM000674.1:g.103232998T>C
NC_000012.10:g.101757128T>C
NG_008690.1:g.83383A>G
NG_008690.2:g.124191A>G
ENST00000553106.6:c.1316-2A>G
ENST00000307000.7:c.1301-2A>G
ENST00000551114.2:n.978-2A>G
ENST00000553106.5:c.1316-2A>G
ENST00000635477.1:c.420-2A>G
ENST00000635528.1:n.831-2A>G
NM_000277.1:c.1316-2A>G
NM_000277.2:c.1316-2A>G
NM_001354304.1:c.1316-2A>G
NM_001354304.2:c.1316-2A>G
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.