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_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs)
CA10605404
286229 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 77174bc5-987b-4b3a-94f0-868d75cd5e60
Approved on: 2020-05-05
Published on: 2020-05-28
HGVS expressions
NM_000152.3:c.2501_2502delCA
NM_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs)
NC_000017.11:g.80118212_80118213del
CM000679.2:g.80118212_80118213del
NC_000017.10:g.78092011_78092012del
CM000679.1:g.78092011_78092012del
NC_000017.9:g.75706606_75706607del
NG_009822.1:g.21657_21658del
NM_000152.3:c.2501_2502del
NM_001079803.1:c.2501_2502del
NM_001079804.1:c.2501_2502del
NM_000152.4:c.2501_2502del
NM_001079803.2:c.2501_2502del
NM_001079804.2:c.2501_2502del
NM_000152.5:c.2501_2502del
NM_001079803.3:c.2501_2502del
NM_001079804.3:c.2501_2502del
ENST00000302262.7:c.2501_2502del
ENST00000390015.7:c.2501_2502del
ENST00000573556.1:n.454_455del
Evidence submitted by expert panel
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