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_000314.7(PTEN):c.610C>G (p.Pro204Ala)
CA000535
189415 (ClinVar)
Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: b5627c7e-eb93-4a97-95aa-58fd645e077c
Approved on: 2023-10-11
Published on: 2023-10-18
HGVS expressions
NM_000314.7:c.610C>G
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala)
NC_000010.11:g.87952235C>G
CM000672.2:g.87952235C>G
NC_000010.10:g.89711992C>G
CM000672.1:g.89711992C>G
NC_000010.9:g.89701972C>G
NG_007466.2:g.93797C>G
ENST00000686459.1:c.*196C>G
ENST00000688158.1:c.*721C>G
ENST00000688308.1:c.610C>G
ENST00000688922.1:c.531C>G
ENST00000693560.1:c.1129C>G
ENST00000371953.8:c.610C>G
ENST00000371953.7:c.610C>G
ENST00000472832.2:c.37C>G
NM_000314.5:c.610C>G
NM_000314.6:c.610C>G
NM_001304717.2:c.1129C>G
NM_001304718.1:c.19C>G
NM_001304717.5:c.1129C>G
NM_001304718.2:c.19C>G
NM_000314.8:c.610C>G
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)
Evidence submitted by expert panel
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