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.8363C>T (p.Thr2788Met)
CA059963
263832 (ClinVar)
Gene: FBN1
Condition: Marfan syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: a1d82f83-e29b-4022-a4ae-7d95a9d27888
Approved on: 2023-02-01
Published on: 2023-02-01
HGVS expressions
NM_000138.4:c.8363C>T
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)
NC_000015.10:g.48411243G>A
CM000677.2:g.48411243G>A
NC_000015.9:g.48703440G>A
CM000677.1:g.48703440G>A
NC_000015.8:g.46490732G>A
NG_008805.2:g.239546C>T
ENST00000682158.1:n.1744C>T
ENST00000682170.1:n.2544C>T
ENST00000682767.1:n.1660C>T
ENST00000316623.10:c.8363C>T
ENST00000674301.1:n.3529C>T
ENST00000316623.9:c.8363C>T
ENST00000559133.5:n.3732C>T
ENST00000561429.1:n.618C>T
NM_000138.5:c.8363C>T
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
Evidence submitted by expert panel
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