The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
CA274067
188874 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 945730af-c6de-4db4-8be4-afb5df17ff92
Approved on: 2020-10-08
Published on: 2020-11-12
HGVS expressions
NM_000152.5:c.1411_1414del
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
NC_000017.11:g.80110029_80110032del
CM000679.2:g.80110029_80110032del
NC_000017.10:g.78083828_78083831del
CM000679.1:g.78083828_78083831del
NC_000017.9:g.75698423_75698426del
NG_009822.1:g.13474_13477del
NM_000152.3:c.1411_1414del
NM_001079803.1:c.1411_1414del
NM_001079804.1:c.1411_1414del
NM_000152.4:c.1411_1414del
NM_001079803.2:c.1411_1414del
NM_001079804.2:c.1411_1414del
NM_001079803.3:c.1411_1414del
NM_001079804.3:c.1411_1414del
ENST00000302262.7:c.1411_1414del
ENST00000390015.7:c.1411_1414del
Evidence submitted by expert panel
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