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_000152.4(GAA):c.925G>A (p.Gly309Arg)
CA273972
188797 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: de8ae80b-693a-4177-8218-1d731456b97c
Approved on: 2021-09-07
Published on: 2021-09-07
HGVS expressions
NM_000152.4:c.925G>A
NM_000152.4(GAA):c.925G>A (p.Gly309Arg)
ENST00000302262.8:c.925G>A
ENST00000302262.7:c.925G>A
ENST00000390015.7:c.925G>A
NM_000152.3:c.925G>A
NM_001079803.1:c.925G>A
NM_001079804.1:c.925G>A
NM_001079803.2:c.925G>A
NM_001079804.2:c.925G>A
NM_000152.5:c.925G>A
NM_001079803.3:c.925G>A
NM_001079804.3:c.925G>A
NC_000017.11:g.80107866G>A
CM000679.2:g.80107866G>A
NC_000017.10:g.78081665G>A
CM000679.1:g.78081665G>A
NC_000017.9:g.75696260G>A
NG_009822.1:g.11311G>A
Evidence submitted by expert panel
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