Full data view for gene FBN1

Information The variants shown are described using the NM_000138.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./+? 1_6i c.-1318_465del r.? p.? Unknown g.(48829845_48888553)_(48938908_?)del - FBN1_000002 - - - - - - - -
?/+? 57 c.6931C>T r.(?) p.(Arg2311Cys) Unknown g.48720609G>A - FBN1_000001 - - - - - - - -
Legend