Variant #0000642625 (NC_000023.10:g.106882595G>A, PRPS1(NM_002764.3):c.193G>A)

Individual ID 00285733
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.106882595G>A
DNA change (hg38) g.107639365G>A
Published as -
ISCN -
DB-ID PRPS1_000006 See all 2 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Liu 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/+ 2 c.193G>A r.(?) p.(Asp65Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000286883 DNA ? - - PRPS1 1 Global Variome, with Curator vacancy