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_000152.5(GAA):c.1192dup (p.Leu398fs)
CA16041890
370510 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 588d5681-ac4f-4e84-afdc-e2962954e613
Approved on: 2020-09-20
Published on: 2020-11-12
HGVS expressions
NM_000152.5:c.1192dup
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
NC_000017.11:g.80108605dup
CM000679.2:g.80108605dup
NC_000017.10:g.78082404dup
CM000679.1:g.78082404dup
NC_000017.9:g.75696999dup
NG_009822.1:g.12050dup
NM_000152.3:c.1192dup
NM_001079803.1:c.1192dup
NM_001079804.1:c.1192dup
NM_000152.4:c.1192dup
NM_001079803.2:c.1192dup
NM_001079804.2:c.1192dup
NM_001079803.3:c.1192dup
NM_001079804.3:c.1192dup
ENST00000302262.7:c.1192dup
ENST00000390015.7:c.1192dup
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.