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.802delG (p.Asp268Thrfs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA000595
7839 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 7fae3512-3b64-4560-8e0f-65a045970149
Approved on: 2023-06-14
Published on: 2023-10-19
HGVS expressions
NM_000314.6:c.802delG
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)
NC_000010.11:g.87960894del
CM000672.2:g.87960894del
NC_000010.10:g.89720651del
CM000672.1:g.89720651del
NC_000010.9:g.89710631del
NG_007466.2:g.102456del
ENST00000686459.1:c.*388del
ENST00000688158.1:c.*913del
ENST00000688308.1:c.802del
ENST00000688922.1:c.723del
ENST00000693560.1:c.1321del
ENST00000371953.8:c.802del
ENST00000371953.7:c.802del
ENST00000472832.2:c.229del
NM_000314.5:c.802del
NM_000314.6:c.802del
NM_001304717.2:c.1321del
NM_001304718.1:c.211del
NM_000314.7:c.802del
NM_001304717.5:c.1321del
NM_001304718.2:c.211del
NM_000314.8:c.802del
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Evidence submitted by expert panel
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