Variant #0000336522 (NC_000009.11:g.108337454_108337457del, FKTN(NM_001079802.1):c.105+36_105+39del)

Individual ID 00151535
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.108337454_108337457del
DNA change (hg38) g.105575173_105575176del
Published as 105+36_105+39delTCTT
ISCN -
DB-ID FKTN_000060
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) Variant not found in online data sets
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 ?/. 3i c.105+36_105+39del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152390 DNA SEQ - - FKTN 1 Madhuri Hegde