All variants in the FBLN5 gene

Information The variants shown are described using the NM_006329.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 6 c.604G>A r.(?) p.(Gly202Arg) - pathogenic g.92357580C>T - 604G>A (G202R) - FBLN5_000024 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 0/183 controls - - - LOVD
Legend   How to query