Variant #0000683199 (NC_000023.10:g.106882532A>G, PRPS1(NM_002764.3):c.130A>G)
Individual ID |
00307646 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.106882532A>G |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PRPS1_000045 |
Variant remarks |
- |
Reference |
PubMed: Puusepp 2020, Journal: Puusepp 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
absent from gnomAD |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Sander Pajusalu |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Sander Pajusalu |
Date created |
2020-08-17 13:09:22 +02:00 (CEST) |
Date last edited |
2021-10-19 14:20:46 +02:00 (CEST) |

Variant on transcripts
Screenings
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