All variants in the FBLN5 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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     
-/. - c.1341A>G r.(?) p.(Pro447=) - benign g.92336574T>C g.91870230T>C FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=) - FBLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1341A>G r.(?) p.(Pro447=) - likely benign g.92336574T>C - FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=) - FBLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query