Variant #0000336438 (NC_000009.11:g.108363426C>T, FKTN(NM_001079802.1):c.166C>T)

Individual ID 00151487
Chromosome 9
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.108363426C>T
DNA change (hg38) g.105601145C>T
Published as -
ISCN -
DB-ID FKTN_000030 See all 9 reported entries
Variant remarks -
Reference PubMed: Bouchet 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 7/214
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01915 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 -?/. 5 c.166C>T r.(spl?) p.(Arg56Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152342 DNA SEQ - - FKTN 1 Johan den Dunnen