Variant #0000336361 (NC_000009.11:g.108382337dup, NM_001079802.1:c.1167dup (FKTN))

Individual ID 00151435
Chromosome 9
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.108382337dup
DNA change (hg38) g.105620056dup
Published as -
ISCN -
DB-ID FKTN_000006 See all 15 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Tom Winder
Database submission license No license selected
Created by Tom Winder
Date created 2007-05-21 17:00:09 +02:00 (CEST)
Date last edited 2020-06-25 17:30:02 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 +/. 10 c.1167dup r.(?) p.(Phe390Ilefs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152290 DNA SEQ - - FKTN 2 Tom Winder


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