Variant #0000642639 (NC_000023.10:g.106888454A>T, PRPS1(NM_002764.3):c.578A>T)
Individual ID |
00285747 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.106888454A>T |
DNA change (hg38) |
g.107645224A>T |
Published as |
- |
ISCN |
- |
DB-ID |
PRPS1_000015 See all 2 reported entries |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: García-Pavía 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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