Variant #0000023410 (NC_000020.10:g.4680091_4680092ins120, PRNP(NM_000311.3):c.225_226ins228_251{246A>G}ins204_227[4])

Individual ID 00004499
Chromosome 20
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680091_4680092ins120
DNA change (hg38) -
Published as 5-OPRI
ISCN -
DB-ID PRNP_000050 See all 2 reported entries
Variant remarks 10 haplotype 1-2-2-3g-2-2-2-2-3-4 (English)
Reference PubMed: Owen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner J Beck
Database submission license No license selected
Created by J Beck
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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.225_226ins228_251{246A>G}ins204_227[4] r.(?) p.(Pro60_Gln67)[9] 10



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004431 DNA DSDI;SEQ Blood - PRNP 1 J Beck