Variant #0000000991 (NC_000020.10:g.4680561T>G, PRNP(NM_000311.3):c.695T>G)

Individual ID 00000991
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680561T>G
Reference Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993)
DB-ID PRNP_000006 See all 8 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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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.695T>G r.(?) p.(Met232Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000991 ? ? PRNP 1 Y Yang