The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- ClinVar Id was derived from the Allele Registry.
Variant: NM_001079804.3:c.1579_1580del
CA627699647
1072906 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 23ff50a2-79d2-457f-bbc7-ddbab4abb5a4
HGVS expressions
NM_001079804.3:c.1579_1580del
NC_000017.11:g.80110968_80110969del
CM000679.2:g.80110968_80110969del
NC_000017.10:g.78084767_78084768del
CM000679.1:g.78084767_78084768del
NC_000017.9:g.75699362_75699363del
NG_009822.1:g.14413_14414del
ENST00000302262.8:c.1579_1580del
ENST00000302262.7:c.1579_1580del
ENST00000390015.7:c.1579_1580del
NM_000152.3:c.1579_1580del
NM_001079803.1:c.1579_1580del
NM_001079804.1:c.1579_1580del
NM_000152.4:c.1579_1580del
NM_001079803.2:c.1579_1580del
NM_001079804.2:c.1579_1580del
NM_000152.5:c.1579_1580del
NM_001079803.3:c.1579_1580del
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
Evidence submitted by expert panel
Approved on: 2022-06-03
Published on: 2022-06-03
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