All variants in the FBLN5 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.268G>A r.(?) p.(Gly90Ser) - likely benign g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.268G>A r.(?) p.(Gly90Ser) - VUS g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.268G>A r.(?) p.(Gly90Ser) - VUS g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.268G>A r.(?) p.(Gly90Ser) - VUS g.92403402C>T - FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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