Variant #0000463965 (NC_000009.11:g.108358916T>C, FKTN(NM_001079802.1):c.143T>C)

Individual ID 00221220
Chromosome 9
Allele Parent #1
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.108358916T>C
DNA change (hg38) g.105596635T>C
Published as -
ISCN -
DB-ID FKTN_000096
Variant remarks no second variant
Reference PubMed: Nallamilli 2018
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 Madhuri Hegde
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 ?/. 4 c.143T>C r.(?) p.(Ile48Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000222291 DNA SEQ;SEQ-NG - targeted gene panel - 2 Madhuri Hegde