Variant #0000600855 (NC_000003.11:g.58107015dup, FLNB(NM_001457.3):c.2911dup)

Individual ID 00267049
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.58107015dup
DNA change (hg38) g.58121288dup
Published as 2906dupG
ISCN -
DB-ID FLNB_000214
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 0.0016
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Samina Yasin
Database submission license No license selected
Created by Samina Yasin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
FLNB NM_001457.3 +/. 20 c.2911dup r.(?) p.(Ala971Glyfs*122) 8



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000268178 DNA SEQ-NG Blood WES FLNB 1 Samina Yasin