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.
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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.799G>A r.(?) p.(Gly267Ser) - VUS g.92349361C>T g.91883017C>T FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S) - FBLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.799G>A r.(?) p.(Gly267Ser) - likely pathogenic g.92349361C>T - FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S) - FBLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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