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) |

Variant on transcripts
Screenings
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