Variant #0000955381 (NC_000016.9:g.57803557G>A, NM_005550.3:c.1168C>T (KIFC3))

Individual ID 00445371
Chromosome 16
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.57803557G>A
DNA change (hg38) g.57769645G>A
Published as -
ISCN -
DB-ID KIFC3_000002
Variant remarks variant shared by individuals with ventricular premature beats
Reference PubMed: Rinne 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-10 22:21:05 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIFC3 NM_005550.3 +?/. - c.1168C>T r.(?) p.(Arg390Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000446942 DNA SEQ;SEQ-NG - WES - 8 Johan den Dunnen


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