Variant #0000336432 (NC_000009.11:g.108363600G>A, FKTN(NM_001079802.1):c.340G>A)

Individual ID 00151483
Chromosome 9
Allele Parent #1
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.108363600G>A
DNA change (hg38) g.105601319G>A
Published as -
ISCN -
DB-ID FKTN_000022 See all 4 reported entries
Variant remarks -
Reference PubMed: Godfrey 2007
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 +/. 5 c.340G>A r.(?) p.(Ala114Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152338 DNA SEQ - - FKTN 2 Johan den Dunnen