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.1579del (p.Arg527fs)
CA1139665924
952947 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 27d5ad78-6294-48d8-81de-0de0df457858
HGVS expressions
NM_000152.5:c.1579del
NM_000152.5(GAA):c.1579del (p.Arg527fs)
NC_000017.11:g.80110968del
CM000679.2:g.80110968del
NC_000017.10:g.78084767del
CM000679.1:g.78084767del
NC_000017.9:g.75699362del
NG_009822.1:g.14413del
ENST00000570803.6:c.1579del
ENST00000572080.2:c.1579del
ENST00000577106.6:c.1579del
ENST00000302262.8:c.1579del
ENST00000302262.7:c.1579del
ENST00000390015.7:c.1579del
NM_000152.3:c.1579del
NM_001079803.1:c.1579del
NM_001079804.1:c.1579del
NM_000152.4:c.1579del
NM_001079803.2:c.1579del
NM_001079804.2:c.1579del
NM_001079803.3:c.1579del
NM_001079804.3:c.1579del
Evidence submitted by expert panel
Approved on: 2024-04-15
Published on: 2024-04-16
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