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) |

Variant on transcripts
Screenings
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