Variant #0000470392 (NC_000014.8:g.92413987G>A, FBLN5(NM_006329.3):c.-414C>T)

Individual ID 00228154
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.92413987G>A
DNA change (hg38) g.91947643G>A
Published as -
ISCN -
DB-ID FBLN5_000013 See all 4 reported entries
Variant remarks associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08)
Reference submitted
ClinVar ID -
dbSNP ID rs7149187
Origin Germline
Segregation -
Frequency 131/347 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Debasmita P Alone
Database submission license No license selected
Created by Debasmita P Alone
Date created 2019-03-19 09:14:03 +01:00 (CET)
Date last edited 2019-05-24 14:34:50 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 ?/. 1 c.-414C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229242 DNA SEQ - - - 1 Debasmita P Alone