Variant #0000698619 (NC_000010.10:g.102509578_102509579del, PAX2(NM_003990.3):c.119_120del)
Individual ID |
00315288 |
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.102509578_102509579del |
DNA change (hg38) |
g.100749821_100749822del |
Published as |
- |
ISCN |
- |
DB-ID |
PAX2_000092 See all 5 reported entries |
Variant remarks |
- |
Reference |
PubMed: Okumura 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
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 |
2016-09-20 16:22:22 +02:00 (CEST) |
Date last edited |
2016-09-20 16:43:35 +02:00 (CEST) |

Variant on transcripts
Screenings
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