Variant #0000336528 (NC_000009.11:g.108363427G>A, FKTN(NM_001079802.1):c.167G>A)

Individual ID 00151541
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.108363427G>A
DNA change (hg38) g.105601146G>A
Published as -
ISCN -
DB-ID FKTN_000065 See all 3 reported entries
Variant remarks -
Reference from website {DBsub-Emory}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00051 View details
Owner Madhuri Hegde
Database submission license No license selected
Created by Madhuri Hegde
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 ?/. 5 c.167G>A r.(?) p.(Arg56His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152396 DNA SEQ - - FKTN 1 Madhuri Hegde