Variant #0000351664 (NC_000023.10:g.106882556G>C, PRPS1(NM_002764.3):c.154G>C)

Individual ID 00151971
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.106882556G>C
DNA change (hg38) g.107639326G>C
Published as -
ISCN -
DB-ID PRPS1_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Becker 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 2 c.154G>C r.(?) p.(Asp52His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152828 DNA SEQ - - PRPS1 1 Johan den Dunnen