The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Variant: NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
CA658824780
550104 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: d5329ec3-79f1-4fc7-a4db-66c65f93d1be
Approved on: 2023-05-26
Published on: 2023-05-26
HGVS expressions
NM_000152.5:c.766_767insC
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
NC_000017.11:g.80107630_80107631insC
CM000679.2:g.80107630_80107631insC
NC_000017.10:g.78081429_78081430insC
CM000679.1:g.78081429_78081430insC
NC_000017.9:g.75696024_75696025insC
NG_009822.1:g.11075_11076insC
ENST00000302262.8:c.766_767insC
ENST00000302262.7:c.766_767insC
ENST00000390015.7:c.766_767insC
ENST00000570803.5:c.766_767insC
NM_000152.3:c.766_767insC
NM_001079803.1:c.766_767insC
NM_001079804.1:c.766_767insC
NM_000152.4:c.766_767insC
NM_001079803.2:c.766_767insC
NM_001079804.2:c.766_767insC
NM_001079803.3:c.766_767insC
NM_001079804.3:c.766_767insC
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.