Variant #0000352550 (NC_000009.11:g.108359773T>G, FKTN(NM_001079802.1):c.165+835T>G)

Individual ID 00152573
Chromosome 9
Allele Paternal (confirmed)
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.108359773T>G
DNA change (hg38) g.105597492T>G
Published as chr9:108359773T>G
ISCN -
DB-ID FKTN_000091
Variant remarks -
Reference PubMed: Lim 2013
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 -?/. 4i c.165+835T>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153430 DNA SEQ;SEQ-NG - - FKTN 4 Johan den Dunnen