Variant #0000020751 (NC_000010.10:g.94372873G>T, NM_004523.3:c.775G>T (KIF11))

Individual ID 00002596
Chromosome 10
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.94372873G>T
DNA change (hg38) g.92613116G>T
Published as -
ISCN -
DB-ID KIF11_000020
Variant remarks -
Reference PubMed: Ostergaard 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pia Ostergaard
Database submission license No license selected
Created by Pia Ostergaard
Date created 2013-09-09 12:49:54 +02:00 (CEST)
Date last edited 2020-02-10 09:24:08 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIF11 NM_004523.3 +?/? 7 c.775G>T r.(?) p.(Gly259*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002469 DNA PCR - - KIF11 1 Pia Ostergaard


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