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_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
CA16602910
376476 (ClinVar)
Gene: PIK3CA
Condition: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Inheritance Mode: Autosomal dominant inheritance (mosaic)
UUID: 8d9a648c-9ee0-4820-8635-a9b83415906d
Approved on: 2022-02-12
Published on: 2022-02-12
HGVS expressions
NM_006218.4:c.2176G>A
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
NC_000003.12:g.179221146G>A
CM000665.2:g.179221146G>A
NC_000003.11:g.178938934G>A
CM000665.1:g.178938934G>A
NC_000003.10:g.180421628G>A
NG_012113.2:g.77624G>A
ENST00000263967.4:c.2176G>A
ENST00000462255.2:n.638G>A
ENST00000643187.1:c.2176G>A
ENST00000674534.1:n.3084G>A
ENST00000674622.1:n.597G>A
ENST00000675467.1:n.4983G>A
ENST00000675786.1:c.*743G>A
ENST00000263967.3:c.2176G>A
ENST00000462255.1:n.450G>A
NM_006218.2:c.2176G>A
NM_006218.3:c.2176G>A
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Evidence submitted by expert panel
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