Variant #0000117152 (NC_000023.10:g.44929077C>A, NM_021140.2:c.2177C>A (KDM6A))
Individual ID |
00073308 |
Chromosome |
X |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44929077C>A |
DNA change (hg38) |
g.45069832C>A |
Published as |
- |
ISCN |
- |
DB-ID |
KDM6A_000001 |
Variant remarks |
recurrent, found 29 times |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
29/208 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.13317 View details |
Owner |
Lucy Raymond |
Database submission license |
No license selected |
Created by |
Lucy Raymond |
Date created |
2009-04-08 14:04:23 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|