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.858+7_858+8insAGCGGGC
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA145794
92489 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: ea364aeb-ae6b-4709-a498-251ba65289a1
Approved on: 2020-05-19
Published on: 2020-06-02
HGVS expressions
NM_000152.5:c.858+7_858+8insAGCGGGC
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
NM_000152.3:c.858+7_858+8insAGCGGGC
NM_001079803.1:c.858+7_858+8insAGCGGGC
NM_001079804.1:c.858+7_858+8insAGCGGGC
NM_000152.4:c.858+7_858+8insAGCGGGC
NM_001079803.2:c.858+7_858+8insAGCGGGC
NM_001079804.2:c.858+7_858+8insAGCGGGC
NM_001079803.3:c.858+7_858+8insAGCGGGC
NM_001079804.3:c.858+7_858+8insAGCGGGC
ENST00000302262.7:c.858+7_858+8insAGCGGGC
ENST00000390015.7:c.858+7_858+8insAGCGGGC
NC_000017.11:g.80107729_80107730insAGCGGGC
CM000679.2:g.80107729_80107730insAGCGGGC
NC_000017.10:g.78081528_78081529insAGCGGGC
CM000679.1:g.78081528_78081529insAGCGGGC
NC_000017.9:g.75696123_75696124insAGCGGGC
NG_009822.1:g.11174_11175insAGCGGGC
Evidence submitted by expert panel
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