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_000314.8(PTEN):c.39_41del (p.Arg15del)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA645369492
428199 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 733edbab-4281-44cd-b894-8ec48422fab7
Approved on: 2021-06-04
Published on: 2022-09-30
HGVS expressions
NM_000314.8:c.39_41del
NM_000314.8(PTEN):c.39_41del (p.Arg15del)
NC_000010.11:g.87864508_87864510del
CM000672.2:g.87864508_87864510del
NC_000010.10:g.89624265_89624267del
CM000672.1:g.89624265_89624267del
NC_000010.9:g.89614245_89614247del
NG_007466.2:g.6070_6072del
NG_033079.1:g.3928_3930del
ENST00000686459.1:c.39_41del
ENST00000688158.1:c.39_41del
ENST00000688308.1:c.39_41del
ENST00000693560.1:c.558_560del
ENST00000371953.8:c.39_41del
ENST00000371953.7:c.39_41del
ENST00000462694.1:n.41_43del
ENST00000487939.1:n.60_62del
ENST00000610634.1:c.-64_-62del
ENST00000618586.1:n.8_10del
NM_000314.5:c.39_41del
NM_000314.6:c.39_41del
NM_001304717.2:c.558_560del
NM_001304718.1:c.-667_-665del
NM_000314.7:c.39_41del
NM_001304717.5:c.558_560del
NM_001304718.2:c.-667_-665del
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Evidence submitted by expert panel
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