The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000152.5(GAA):c.2161dup (p.Glu721fs)
CA658795275
550277 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 5972c29d-3cbc-4a6f-8559-4f8a0861271b
Approved on: 2024-04-05
Published on: 2024-04-05
HGVS expressions
NM_000152.5:c.2161dup
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
NC_000017.11:g.80113338dup
CM000679.2:g.80113338dup
NC_000017.10:g.78087137dup
CM000679.1:g.78087137dup
NC_000017.9:g.75701732dup
NG_009822.1:g.16783dup
ENST00000570803.6:c.2161dup
ENST00000572080.2:c.*299dup
ENST00000577106.6:c.2161dup
ENST00000302262.8:c.2161dup
ENST00000302262.7:c.2161dup
ENST00000390015.7:c.2161dup
ENST00000572080.1:c.580dup
NM_000152.3:c.2161dup
NM_001079803.1:c.2161dup
NM_001079804.1:c.2161dup
NM_000152.4:c.2161dup
NM_001079803.2:c.2161dup
NM_001079804.2:c.2161dup
NM_001079803.3:c.2161dup
NM_001079804.3:c.2161dup
Evidence submitted by expert panel
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