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 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-06-19 02:19:40 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBLN5 NM_006329.3 -?/. 3i c.125-32C>T r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377415 DNA DHPLC; SEQ - - FBLN5 1 LOVD