Variant #0000821775 (NC_000009.11:g.108363606C>T, FKTN(NM_001079802.1):c.346C>T)

Individual ID 00390608
Chromosome 9
Allele Parent #1
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.108363606C>T
DNA change (hg38) g.105601325C>T
Published as -
ISCN -
DB-ID FKTN_000050 See all 3 reported entries
Variant remarks -
Reference PubMed: Song 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.346C>T r.(?) p.(Gln116Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391849 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen