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.2780C>T (p.Thr927Ile)
CA145778
92482 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 0dace307-d73d-4361-89ee-42f551fed0d7
Approved on: 2020-01-23
Published on: 2020-05-19
HGVS expressions
NM_000152.4:c.2780C>T
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile)
NC_000017.11:g.80118786C>T
CM000679.2:g.80118786C>T
NC_000017.10:g.78092585C>T
CM000679.1:g.78092585C>T
NC_000017.9:g.75707180C>T
NG_009822.1:g.22231C>T
NM_000152.3:c.2780C>T
NM_001079803.1:c.2780C>T
NM_001079804.1:c.2780C>T
NM_001079803.2:c.2780C>T
NM_001079804.2:c.2780C>T
NM_000152.5:c.2780C>T
NM_001079803.3:c.2780C>T
NM_001079804.3:c.2780C>T
ENST00000302262.7:c.2780C>T
ENST00000390015.7:c.2780C>T
ENST00000573556.1:n.733C>T
Evidence submitted by expert panel
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