Variant #0000336353 (NC_000009.11:g.108358912C>T, FKTN(NM_001079802.1):c.139C>T)

Individual ID 00151431
Chromosome 9
Allele Parent #2
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.108358912C>T
DNA change (hg38) g.105596631C>T
Published as -
ISCN -
DB-ID FKTN_000002 See all 14 reported entries
Variant remarks -
Reference PubMed: Matsumoto 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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 +/. 4 c.139C>T r.(?) p.(Arg47*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152286 DNA SEQ - - FKTN 2 Johan den Dunnen