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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Variant: NM_000152.5(GAA):c.2706del (p.Lys903fs)
CA658795297
554339 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 35ff100e-5176-43e3-8c7d-53ae80023705
HGVS expressions
NM_000152.5:c.2706del
NM_000152.5(GAA):c.2706del (p.Lys903fs)
NC_000017.11:g.80118712del
CM000679.2:g.80118712del
NC_000017.10:g.78092511del
CM000679.1:g.78092511del
NC_000017.9:g.75707106del
NG_009822.1:g.22157del
ENST00000302262.8:c.2706del
ENST00000302262.7:c.2706del
ENST00000390015.7:c.2706del
ENST00000573556.1:n.659del
NM_000152.3:c.2706del
NM_001079803.1:c.2706del
NM_001079804.1:c.2706del
NM_000152.4:c.2706del
NM_001079803.2:c.2706del
NM_001079804.2:c.2706del
NM_001079803.3:c.2706del
NM_001079804.3:c.2706del
Evidence submitted by expert panel
Approved on: 2022-09-06
Published on: 2022-09-19
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