Variant #0000130302 (NC_000009.11:g.97401474_97401479dup, FBP1(NM_000507.3):c.114_119dup)

Individual ID 00080858
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.97401474_97401479dup
DNA change (hg38) g.94639192_94639197dup
Published as -
ISCN -
DB-ID FBP1_000001
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel Trujillano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FBP1 NM_000507.3 +/. - c.114_119dup r.(?) p.(Cys39_Thr40dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080970 DNA SEQ;SEQ-NG - - FBP1 1 Daniel Trujillano