Variant #0000076732 (NC_000010.10:g.94373133G>A, NC_000010.10(NM_004523.3):c.790-1G>A (KIF11))

Individual ID 00047849
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.94373133G>A
DNA change (hg38) g.92613376G>A
Published as -
ISCN -
DB-ID KIF11_000061
Variant remarks -
Reference PubMed: Mirzaa 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 2015-08-28 13:27:59 +02:00 (CEST)
Date last edited 2020-06-29 09:15:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIF11 NM_004523.3 +?/+? 7i c.790-1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047965 DNA SEQ - - KIF11 1 Pia Ostergaard


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