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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 2 c.130A>G r.(?) p.(Ile44Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308787 DNA SEQ-NG-I Blood TruSight One panel (4800 genes) - 1 Sander Pajusalu