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.2544del (p.Lys849fs)
CA220403
92480 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 507ad3ef-28e1-44e0-a1b7-dc40d7faea79
Approved on: 2021-12-02
Published on: 2021-12-02
HGVS expressions
NM_000152.5:c.2544del
NM_000152.5(GAA):c.2544del (p.Lys849fs)
NC_000017.11:g.80118255del
CM000679.2:g.80118255del
NC_000017.10:g.78092054del
CM000679.1:g.78092054del
NC_000017.9:g.75706649del
NG_009822.1:g.21700del
ENST00000302262.8:c.2544del
ENST00000302262.7:c.2544del
ENST00000390015.7:c.2544del
ENST00000573556.1:n.497del
NM_000152.3:c.2544del
NM_001079803.1:c.2544del
NM_001079804.1:c.2544del
NM_000152.4:c.2544del
NM_001079803.2:c.2544del
NM_001079804.2:c.2544del
NM_001079803.3:c.2544del
NM_001079804.3:c.2544del
Evidence submitted by expert panel
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