Variant #0000406018 (NC_000009.11:g.108337335G>A, FKTN(NM_001079802.1):c.22G>A)

Individual ID 00176997
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.108337335G>A
DNA change (hg38) g.105575054G>A
Published as -
ISCN -
DB-ID FKTN_000093
Variant remarks -
Reference PubMed: Papuc 2019
ClinVar ID -
dbSNP ID rs368981218
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 ?/. - c.22G>A r.(?) p.(Val8Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177888 DNA SEQ-NG-I - - - 3 Anaïs Begemann