Variant #0000023030 (NC_000020.10:g.4680459T>C, PRNP(NM_000311.3):c.593T>C)

Individual ID 00004178
Chromosome 20
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680459T>C
DNA change (hg38) g.4699813T>C
Published as -
ISCN -
DB-ID PRNP_000030
Variant remarks -
Reference {PMID07916191:Ghetti 1994}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 +/? 2 c.593T>C r.(?) p.(Phe198Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004106 DNA PCRdig;SEQ - - PRNP 2 Johan den Dunnen