ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
Marfan syndrome
VCEP
FBN1 VCEP
Revel Score:
ENST00000389087
0.209
ENST00000316623 (MANE Select)
0.973
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427755C>T , CM000677.2:g.48427755C>T | GRCh38 |
| NC_000015.9:g.48719952C>T , CM000677.1:g.48719952C>T | GRCh37 |
| NC_000015.8:g.46507244C>T | NCBI36 |
| NG_008805.2:g.223034G>A , LRG_778:g.223034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7078G>A | ENSP00000453958.2:p.Ala2360Thr | |
| ENST00000674301.2:c.*529G>A | ENSP00000501333.2:n.*529G>A | |
| ENST00000682170.1:n.1197G>A | ||
| ENST00000682767.1:n.313G>A | ||
| ENST00000316623.10:c.7016G>A MANE Select | ENSP00000325527.5:p.Cys2339Tyr | |
| ENST00000674301.1:c.2182G>A | ENSP00000501333.1:n.2182G>A | |
| ENST00000316623.9:c.7016G>A | ENSP00000325527.5:p.Cys2339Tyr | |
| ENST00000559133.5:c.2385G>A | ||
| NM_000138.4:c.7016G>A , LRG_778t1:c.7016G>A | NP_000129.3:p.Cys2339Tyr | |
| NM_000138.5:c.7016G>A MANE Select | NP_000129.3:p.Cys2339Tyr |