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_000314.6(PTEN):c.801+1delG
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA16613026
404140 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: d8470abc-cd84-4dd7-aa9d-def2c9c878aa
Approved on: 2020-03-23
Published on: 2020-03-25
HGVS expressions
NM_000314.6:c.801+1delG
NM_000314.6(PTEN):c.801+1delG
NC_000010.11:g.87958020del
CM000672.2:g.87958020del
NC_000010.10:g.89717777del
CM000672.1:g.89717777del
NC_000010.9:g.89707757del
NG_007466.2:g.99582del
NM_000314.5:c.801+1del
NM_000314.6:c.801+1del
NM_001304717.2:c.1320+1del
NM_001304718.1:c.210+1del
NM_000314.7:c.801+1del
NM_001304717.5:c.1320+1del
NM_001304718.2:c.210+1del
NM_000314.8:c.801+1del
ENST00000371953.7:c.801+1del
ENST00000472832.2:n.228+1del
More
Evidence submitted by expert panel
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