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.1030_1031del (p.Gly344fs)
CA913191005
597147 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 4b724960-98be-441e-b952-6b58ca3dec8e
HGVS expressions
NM_000152.5:c.1030_1031del
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
NC_000017.11:g.80108364_80108365del
CM000679.2:g.80108364_80108365del
NC_000017.10:g.78082163_78082164del
CM000679.1:g.78082163_78082164del
NC_000017.9:g.75696758_75696759del
NG_009822.1:g.11809_11810del
ENST00000302262.8:c.1030_1031del
ENST00000302262.7:c.1030_1031del
ENST00000390015.7:c.1030_1031del
NM_000152.3:c.1030_1031del
NM_001079803.1:c.1030_1031del
NM_001079804.1:c.1030_1031del
NM_000152.4:c.1030_1031del
NM_001079803.2:c.1030_1031del
NM_001079804.2:c.1030_1031del
NM_001079803.3:c.1030_1031del
NM_001079804.3:c.1030_1031del
Evidence submitted by expert panel
Approved on: 2023-03-10
Published on: 2023-03-10
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