Variant #0000001492 (NC_000020.10:g.4680171C>T, PRNP(NM_000311.3):c.305C>T)

Individual ID 00001492
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680171C>T
Reference Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011)
DB-ID PRNP_000024 See all 9 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PRNP NM_000311.3 ./. 2 c.305C>T r.(?) p.(Pro102Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001492 ? ? PRNP 1 Y Yang