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.258dup (p.Asn87fs)
CA8814826
282842 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 081e8068-c40d-4647-8006-fbecab5b6d86
HGVS expressions
NM_000152.5:c.258dup
NM_000152.5(GAA):c.258dup (p.Asn87fs)
ENST00000302262.8:c.258dup
ENST00000302262.7:c.258dup
ENST00000390015.7:c.258dup
ENST00000570803.5:c.258dup
ENST00000577106.5:c.258dup
NM_000152.3:c.258dup
NM_001079803.1:c.258dup
NM_001079804.1:c.258dup
NM_000152.4:c.258dup
NM_001079803.2:c.258dup
NM_001079804.2:c.258dup
NM_001079803.3:c.258dup
NM_001079804.3:c.258dup
NC_000017.11:g.80104844dup
CM000679.2:g.80104844dup
NC_000017.10:g.78078643dup
CM000679.1:g.78078643dup
NC_000017.9:g.75693238dup
NG_009822.1:g.8289dup
Evidence submitted by expert panel
Approved on: 2021-09-28
Published on: 2021-09-28
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