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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-12 14:24:44 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +?/. - c.827C>A r.(?) p.(Pro276His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315576 DNA SEQ;SEQ-NG - WES PRPS1 1 Johan den Dunnen