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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- No ClinVar Id was directly found from the curated document
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- See Evidence submitted by expert panel for details.
Variant: NM_000138.5:c.7643T>A
CA392325153
Gene: FBN1
Condition: Marfan syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 1061a5c8-8865-40bb-a426-cd2bbe3585aa
HGVS expressions
NM_000138.5:c.7643T>A
NC_000015.10:g.48421614A>T
CM000677.2:g.48421614A>T
NC_000015.9:g.48713811A>T
CM000677.1:g.48713811A>T
NC_000015.8:g.46501103A>T
NG_008805.2:g.229175T>A
ENST00000682170.1:n.1824T>A
ENST00000682767.1:n.940T>A
ENST00000316623.10:c.7643T>A
ENST00000674301.1:n.2809T>A
ENST00000316623.9:c.7643T>A
ENST00000559133.5:n.3012T>A
NM_000138.4:c.7643T>A
Evidence submitted by expert panel
Approved on: 2022-12-01
Published on: 2022-12-01
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