ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
Marfan syndrome
VCEP
FBN1 VCEP
Revel Score:
ENST00000316623 (MANE Select)
0.967
ENST00000389087
0.967
ENST00000544030
0.967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446747C>T , CM000677.2:g.48446747C>T | GRCh38 |
| NC_000015.9:g.48738944C>T , CM000677.1:g.48738944C>T | GRCh37 |
| NC_000015.8:g.46526236C>T | NCBI36 |
| NG_008805.2:g.204042G>A , LRG_778:g.204042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5747G>A | ENSP00000453958.2:p.Cys1916Tyr | |
| ENST00000674301.2:c.5747G>A | ENSP00000501333.2:p.Cys1916Tyr | |
| ENST00000684448.1:n.4421G>A | ||
| ENST00000316623.10:c.5747G>A MANE Select | ENSP00000325527.5:p.Cys1916Tyr | |
| ENST00000674301.1:c.746G>A | ENSP00000501333.1:p.Cys249Tyr | |
| ENST00000316623.9:c.5747G>A | ENSP00000325527.5:p.Cys1916Tyr | |
| ENST00000537463.6:c.*1510G>A | ENSP00000440294.2:n.*1510G>A | |
| ENST00000559133.5:c.1054G>A | ||
| NM_000138.4:c.5747G>A , LRG_778t1:c.5747G>A | NP_000129.3:p.Cys1916Tyr | |
| NM_000138.5:c.5747G>A MANE Select | NP_000129.3:p.Cys1916Tyr |