Variant #0000697665 (NC_000023.10:g.106890958C>A, PRPS1(NM_002764.3):c.827C>A)
Individual ID |
00314403 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.106890958C>A |
DNA change (hg38) |
g.107647728C>A |
Published as |
- |
ISCN |
- |
DB-ID |
PRPS1_000047 |
Variant remarks |
combination of variants not reported |
Reference |
PubMed: Topf 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/1001 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-10-12 14:24:44 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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