Variant #0000023052 (NC_000020.10:g.4680070_4680093del, PRNP(NM_000311.3):c.(204_227)del)

Individual ID 00004191
Chromosome 20
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680070_4680093del
DNA change (hg38) g.4699424_4699447del
Published as ?_225del24
ISCN -
DB-ID PRNP_000010 See all 5 reported entries
Variant remarks 24 bp del upstream codon 76
Reference {PMID08030960:Masullo 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 ?/? 2 c.(204_227)del r.(?) p.(Pro84_Gln91)del -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004119 DNA PCRdig;SEQ - - PRNP 4 Johan den Dunnen