Variant #0000351675 (NC_000023.10:g.106888445C>T, PRPS1(NM_002764.3):c.569C>T)

Individual ID 00151982
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.106888445C>T
DNA change (hg38) g.107645215C>T
Published as c.569C>T
ISCN -
DB-ID PRPS1_000014 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
Date created 2012-11-07 11:56:42 +01:00 (CET)
Date last edited 2018-01-29 21:06:49 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 5 c.569C>T r.(?) p.(Ala190Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152839 DNA SEQ - - PRPS1 1 Johan den Dunnen