Variant #0000698419 (NC_000010.10:g.102509530G>A, PAX2(NM_003990.3):c.71G>A)
Individual ID |
00315093 |
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.102509530G>A |
DNA change (hg38) |
g.100749773G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PAX2_000005 |
Variant remarks |
- |
Reference |
PubMed: Thomas 2011 |
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 |
2011-06-20 21:43:42 +02:00 (CEST) |
Date last edited |
2012-01-09 18:27:08 +01:00 (CET) |

Variant on transcripts
Screenings
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