Variant #0000790060 (NC_000009.11:g.108360365A>G, FKTN(NM_001079802.1):c.165+1427A>G)

Individual ID 00376421
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.108360365A>G
DNA change (hg38) g.105598084A>G
Published as NM_001351497.1:c.-2-2A>G
ISCN -
DB-ID FKTN_000149
Variant remarks ACMG PVS1 PM2 PM3 PP3; no genotypes reported
Reference PubMed: Nguyen 2021
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 Johan den Dunnen
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     
FKTN NM_001079802.1 +/. - c.165+1427A>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377626 DNA SEQ-NG - 58-gene panel FKTN 2 Johan den Dunnen