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.393del (p.Ser132fs)
CA16041882
371580 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: fad4b958-eef9-4b84-96cf-9fa7bee3e3eb
HGVS expressions
NM_000152.5:c.393del
NM_000152.5(GAA):c.393del (p.Ser132fs)
NC_000017.11:g.80104979del
CM000679.2:g.80104979del
NC_000017.10:g.78078778del
CM000679.1:g.78078778del
NC_000017.9:g.75693373del
NG_009822.1:g.8424del
ENST00000302262.8:c.393del
ENST00000302262.7:c.393del
ENST00000390015.7:c.393del
ENST00000570803.5:c.393del
ENST00000577106.5:c.393del
NM_000152.3:c.393del
NM_001079803.1:c.393del
NM_001079804.1:c.393del
NM_000152.4:c.393del
NM_001079803.2:c.393del
NM_001079804.2:c.393del
NM_001079803.3:c.393del
NM_001079804.3:c.393del
Evidence submitted by expert panel
Approved on: 2023-03-10
Published on: 2023-03-10
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