Variant #0000789735 (NC_000014.8:g.92403577G>A, FBLN5(NM_006329.3):c.125-32C>T)
Individual ID |
00376219 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92403577G>A |
DNA change (hg38) |
- |
Published as |
IVS3-32C>T |
ISCN |
- |
DB-ID |
FBLN5_000026 |
Variant remarks |
- |
Reference |
PubMed: Barbazetto 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
found in 2/214 cases and 2/183 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00087 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2021-06-19 02:19:40 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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