Variant #0000698561 (NC_000010.10:g.102509535dup, PAX2(NM_003990.3):c.76dup)
Individual ID |
00315231 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.102509535dup |
DNA change (hg38) |
g.100749778dup |
Published as |
- |
ISCN |
- |
DB-ID |
PAX2_000001 See all 59 reported entries |
Variant remarks |
- |
Reference |
PubMed: Gucev 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Matthew Bower |
Database submission license |
No license selected |
Created by |
Matthew Bower |
Date created |
2012-04-07 00:26:36 +02:00 (CEST) |
Date last edited |
2013-04-13 15:32:50 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|