All variants in the FBLN5 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1122C>T r.(?) p.(Tyr374=) - benign g.92343894G>A g.91877550G>A FBLN5(NM_006329.4):c.1122C>T (p.Y374=) - FBLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1122C>T r.(?) p.(Tyr374=) - benign g.92343894G>A g.91877550G>A FBLN5(NM_006329.4):c.1122C>T (p.Y374=) - FBLN5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 10 c.1122C>T r.(=) p.(=) - likely benign g.92343894G>A - 1122C>T (Y374Y) - FBLN5_000016 - PubMed: Barbazetto 2007 - - Germline - found in 8/213 cases and 9/183 controls - - - LOVD
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