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_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
CA658824381
549451 (ClinVar)
Gene: N/A
Condition: Marfan syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 4a7f1c6d-1aa8-4a30-b326-d682055e3c1f
Approved on: 2023-09-28
Published on: 2023-09-28
HGVS expressions
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
NC_000015.10:g.48415536delinsAA
CM000677.2:g.48415536delinsAA
NC_000015.9:g.48707733delinsAA
CM000677.1:g.48707733delinsAA
NC_000015.8:g.46495025delinsAA
NG_008805.2:g.235253delinsTT
ENST00000682158.1:n.1432delinsTT
ENST00000682170.1:n.2232delinsTT
ENST00000682767.1:n.1348delinsTT
ENST00000316623.10:c.8051delinsTT
ENST00000674301.1:c.3217delinsTT
ENST00000316623.9:c.8051delinsTT
ENST00000559133.5:c.3420delinsTT
ENST00000561429.1:n.306delinsTT
NM_000138.4:c.8051delinsTT
NM_000138.5:c.8051delinsTT
Evidence submitted by expert panel
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