Variant #0000818599 (NC_000009.11:g.108358944T>C, FKTN(NM_001079802.1):c.165+6T>C)

Individual ID 00388267
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.108358944T>C
DNA change (hg38) g.105596663T>C
Published as -
ISCN -
DB-ID FKTN_000153
Variant remarks -
Reference -
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 Young Jun Ko
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Young Jun Ko
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 +?/. 4i c.165+6T>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389506 DNA SEQ-NG - - FKTN 2 Young Jun Ko