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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-13 19:37:38 +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 +/. - c.376G>A r.(?) p.(Val126Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363235 DNA SEQ;SEQ-NG - WES - 9 LOVD