Variant #0000642627 (NC_000023.10:g.106884161T>C, PRPS1(NM_002764.3):c.336T>C)

Individual ID 00285735
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.106884161T>C
DNA change (hg38) g.107640931T>C
Published as -
ISCN -
DB-ID PRPS1_000038
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: de Brouwer 1993
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 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 -/- 3 c.336T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286885 DNA ? - - PRPS1 1 Global Variome, with Curator vacancy