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_000138.5(FBN1):c.6163+2dup
CA304350
200167 (ClinVar)
Gene: FBN1
Condition: Marfan syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 3401a70a-1ff0-42ee-a482-b9993196d6f9
HGVS expressions
NM_000138.5:c.6163+2dup
NM_000138.5(FBN1):c.6163+2dup
NC_000015.10:g.48441719dup
CM000677.2:g.48441719dup
NC_000015.9:g.48733916dup
CM000677.1:g.48733916dup
NC_000015.8:g.46521208dup
NG_008805.2:g.209070dup
ENST00000559133.6:c.6163+2dup
ENST00000674301.2:c.6163+2dup
ENST00000316623.10:c.6163+2dup
ENST00000674301.1:c.1162+2dup
ENST00000316623.9:c.6163+2dup
ENST00000537463.6:c.*1926+2dup
ENST00000559133.5:c.1470+2dup
ENST00000560820.1:n.283+2dup
NM_000138.4:c.6163+2dup
Evidence submitted by expert panel
Approved on: 2024-02-22
Published on: 2024-02-22
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