Canonical Allele Identifier: CA055122
Gene: FBN1 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition Marfan syndrome
VCEP FBN1 VCEP
COSMIC:
COSM1206710
MyVariant.info:
GRCh38 chr15:g.48452589G>A
GRCh37 chr15:g.48744786G>A
Revel Score:
ENST00000316623 (MANE Select) 0.780
ENST00000389087 0.780
ENST00000544030 0.780
gnomAD v2:
15:48744786 G / A
gnomAD v3:
15:48452589 G / A
gnomAD v4:
chr15-48452589-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48452589G>A , CM000677.2:g.48452589G>A GRCh38
NC_000015.9:g.48744786G>A , CM000677.1:g.48744786G>A GRCh37
NC_000015.8:g.46532078G>A NCBI36
NG_008805.2:g.198200C>T , LRG_778:g.198200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5518C>T ENSP00000453958.2:p.Arg1840Cys
ENST00000674301.2:c.5518C>T ENSP00000501333.2:p.Arg1840Cys
ENST00000684448.1:n.4192C>T
ENST00000316623.10:c.5518C>T MANE Select ENSP00000325527.5:p.Arg1840Cys
ENST00000674301.1:c.517C>T ENSP00000501333.1:p.Arg173Cys
ENST00000316623.9:c.5518C>T ENSP00000325527.5:p.Arg1840Cys
ENST00000537463.6:c.*1281C>T ENSP00000440294.2:n.*1281C>T
ENST00000559133.5:c.825C>T
NM_000138.4:c.5518C>T , LRG_778t1:c.5518C>T NP_000129.3:p.Arg1840Cys
NM_000138.5:c.5518C>T MANE Select NP_000129.3:p.Arg1840Cys
Search 100 bp 5'
Search 100 bp 3'