Variant #0000763781 (NC_000014.8:g.92403294C>T, FBLN5(NM_006329.3):c.376G>A)
Individual ID |
00362007 |
Chromosome |
14 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92403294C>T |
DNA change (hg38) |
g.91936950C>T |
Published as |
376C>T |
ISCN |
- |
DB-ID |
FBLN5_000008 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Duvvari 2016 |
ClinVar ID |
- |
dbSNP ID |
rs61734479 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00185 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-04-13 19:37:38 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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