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.830C>T (p.Thr277Ile)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA000207
184277 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: a777d351-791d-4ae1-8feb-2a6403a3fe1f
Approved on: 2023-06-14
Published on: 2023-10-19
HGVS expressions
NM_000314.8:c.830C>T
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)
NC_000010.11:g.87960922C>T
CM000672.2:g.87960922C>T
NC_000010.10:g.89720679C>T
CM000672.1:g.89720679C>T
NC_000010.9:g.89710659C>T
NG_007466.2:g.102484C>T
ENST00000686459.1:c.*416C>T
ENST00000688158.1:c.*941C>T
ENST00000688308.1:c.830C>T
ENST00000688922.1:c.751C>T
ENST00000693560.1:c.1349C>T
ENST00000371953.8:c.830C>T
ENST00000371953.7:c.830C>T
ENST00000472832.2:c.257C>T
NM_000314.5:c.830C>T
NM_000314.6:c.830C>T
NM_001304717.2:c.1349C>T
NM_001304718.1:c.239C>T
NM_000314.7:c.830C>T
NM_001304717.5:c.1349C>T
NM_001304718.2:c.239C>T
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Evidence submitted by expert panel
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