Variant #0000463961 (NC_000009.11:g.108363422A>G, FKTN(NM_001079802.1):c.166-4A>G)

Individual ID 00221087
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.108363422A>G
DNA change (hg38) g.105601141A>G
Published as -
ISCN -
DB-ID FKTN_000046 See all 3 reported entries
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) 0.00083 View details
Owner Madhuri Hegde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKTN NM_001079802.1 ?/. 4i c.166-4A>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000222158 DNA SEQ;SEQ-NG - targeted gene panel - 2 Madhuri Hegde