The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- 'cspec' property is found but contains no ID!
- See Evidence submitted by expert panel for details.
Variant: NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
CA8815234
657348 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 13d44d46-c6e9-4a49-af4b-41db6c72811b
HGVS expressions
NM_000152.5:c.1210G>A
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
NC_000017.11:g.80108712G>A
CM000679.2:g.80108712G>A
NC_000017.10:g.78082511G>A
CM000679.1:g.78082511G>A
NC_000017.9:g.75697106G>A
NG_009822.1:g.12157G>A
ENST00000302262.8:c.1210G>A
ENST00000302262.7:c.1210G>A
ENST00000390015.7:c.1210G>A
NM_000152.3:c.1210G>A
NM_001079803.1:c.1210G>A
NM_001079804.1:c.1210G>A
NM_000152.4:c.1210G>A
NM_001079803.2:c.1210G>A
NM_001079804.2:c.1210G>A
NM_001079803.3:c.1210G>A
NM_001079804.3:c.1210G>A
Evidence submitted by expert panel
Approved on: 2022-09-21
Published on: 2022-10-21
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