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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- See Evidence submitted by expert panel for details.
Variant: NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)
CA169101
142681 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 742e08c9-7bda-4006-95f1-22f34ec0d9e1
Approved on: 2017-11-08
Published on: 2018-12-10
HGVS expressions
NM_000314.6:c.304_306dupAAA
NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)
NM_000314.5:c.304_306dup
NM_000314.6:c.304_306dup
NM_001304717.2:c.823_825dup
NM_001304718.1:c.-447_-445dup
NM_000314.7:c.304_306dup
NM_001304717.5:c.823_825dup
NM_001304718.2:c.-447_-445dup
ENST00000371953.7:c.304_306dup
ENST00000498703.1:n.130_132dup
ENST00000610634.1:c.202_204dup
NC_000010.11:g.87933063_87933065dup
CM000672.2:g.87933063_87933065dup
NC_000010.10:g.89692820_89692822dup
CM000672.1:g.89692820_89692822dup
NC_000010.9:g.89682800_89682802dup
NG_007466.2:g.74625_74627dup
Evidence submitted by expert panel
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