Variant #0000001040 (NC_000020.10:g.4680464G>A, PRNP(NM_000311.3):c.598G>A)

Individual ID 00001040
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680464G>A
Reference Minikel EV1, Zerr I2, Collins SJ3, Ponto C4, Boyd A3, Klug G3, Karch A4, Kenny J5, Collinge J5, Takada LT6, Forner S6, Fong JC6, Mead S5, Geschwind MD6.(2014)
DB-ID PRNP_000003 See all 10 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001040 ? ? PRNP 1 Y Yang