All variants in the FBLN5 gene

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

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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     
+/. 10 c.1093A>G r.(?) p.(Ile365Val) - pathogenic (dominant) g.92343923T>C g.91877579T>C - - FBLN5_000020 - PubMed: Birtel 2018 - - Germline - - - - - LOVD
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