ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
Marfan syndrome
VCEP
FBN1 VCEP
Revel Score:
ENST00000316623 (MANE Select)
0.915
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420743T>C , CM000677.2:g.48420743T>C | GRCh38 |
| NC_000015.9:g.48712940T>C , CM000677.1:g.48712940T>C | GRCh37 |
| NC_000015.8:g.46500232T>C | NCBI36 |
| NG_008805.2:g.230046A>G , LRG_778:g.230046A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*571A>G | ENSP00000453958.2:n.*571A>G | |
| ENST00000674301.2:c.*1276A>G | ENSP00000501333.2:n.*1276A>G | |
| ENST00000682170.1:n.1944A>G | ||
| ENST00000682767.1:n.1060A>G | ||
| ENST00000316623.10:c.7763A>G MANE Select | ENSP00000325527.5:p.Tyr2588Cys | |
| ENST00000674301.1:c.2929A>G | ENSP00000501333.1:n.2929A>G | |
| ENST00000316623.9:c.7763A>G | ENSP00000325527.5:p.Tyr2588Cys | |
| ENST00000559133.5:c.3132A>G | ||
| NM_000138.4:c.7763A>G , LRG_778t1:c.7763A>G | NP_000129.3:p.Tyr2588Cys | |
| NM_000138.5:c.7763A>G MANE Select | NP_000129.3:p.Tyr2588Cys |