Variant #0000794235 (NC_000010.10:g.102509554C>G, PAX2(NM_003990.3):c.95C>G)
Individual ID |
00379776 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.102509554C>G |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PAX2_000165 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jinu Han |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Jinu Han |
Date created |
2021-08-09 09:05:41 +02:00 (CEST) |
Date last edited |
2021-08-11 14:37:22 +02:00 (CEST) |

Variant on transcripts
Screenings
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