Variant #0000598420 (NC_000023.10:g.106882538G>C, PRPS1(NM_002764.3):c.136G>C)
Individual ID |
00266241 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.106882538G>C |
DNA change (hg38) |
g.107639308G>C |
Published as |
- |
ISCN |
- |
DB-ID |
PRPS1_000034 |
Variant remarks |
- |
Reference |
Mercati et al 2019 submitted |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Laurence Jonard |
Database submission license |
No license selected |
Created by |
Laurence Jonard |
Date created |
2019-10-17 16:49:37 +02:00 (CEST) |
Date last edited |
2019-11-30 12:05:01 +01:00 (CET) |

Variant on transcripts
Screenings
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