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     
?/. 1 c.-414C>T r.(?) p.(=) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08) submitted - rs7149187 Germline - 131/347 cases - - - Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 - submitted - rs7149187 Germline - 135/302 controls - - - Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 - submitted - rs7149187 Germline - 50/302 controls - - - Debasmita P Alone
?/. 1 c.-414C>T r.(?) p.(=) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08) submitted - - Germline - 44/347 cases - - - Debasmita P Alone
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