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.448dup (p.Ala150fs)
CA658824776
551530 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: b9b37cc4-0c75-405f-a509-2fb0b121fb8b
HGVS expressions
NM_000152.5:c.448dup
NM_000152.5(GAA):c.448dup (p.Ala150fs)
NC_000017.11:g.80105034dup
CM000679.2:g.80105034dup
NC_000017.10:g.78078833dup
CM000679.1:g.78078833dup
NC_000017.9:g.75693428dup
NG_009822.1:g.8479dup
ENST00000302262.8:c.448dup
ENST00000302262.7:c.448dup
ENST00000390015.7:c.448dup
ENST00000570803.5:c.448dup
ENST00000577106.5:c.448dup
NM_000152.3:c.448dup
NM_001079803.1:c.448dup
NM_001079804.1:c.448dup
NM_000152.4:c.448dup
NM_001079803.2:c.448dup
NM_001079804.2:c.448dup
NM_001079803.3:c.448dup
NM_001079804.3:c.448dup
Evidence submitted by expert panel
Approved on: 2023-03-10
Published on: 2023-03-10
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