Variant #0000336417 (NC_000009.11:g.108358932A>G, FKTN(NM_001079802.1):c.165-6A>G)

Individual ID 00151473
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.108358932A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID FKTN_000031
Variant remarks Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Godfrey 2007
ClinVar ID -
dbSNP ID rs41277795
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.165-6A>G r.(spl?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152328 DNA SEQ - - FKTN 1 Johan den Dunnen