Variant #0000648546 (NC_000012.11:g.39745624T>C, NM_001173464.1:c.1628A>G (KIF21A))

Individual ID 00290689
Chromosome 12
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.39745624T>C
DNA change (hg38) g.39351822T>C
Published as -
ISCN -
DB-ID KIF21A_000028
Variant remarks 3 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs149219011
Origin Germline
Segregation -
Frequency 3/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2022-12-23 14:47:35 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIF21A NM_001173464.1 -?/. - c.1628A>G r.(?) p.(Lys543Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291857 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.