Variant #0000000382 (NC_000012.11:g.49691403C>A, PRPH(NM_006262.3):c.1217+43C>A)

Individual ID 00000382
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.49691403C>A
Reference Gros-Louis F1, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP.(2004)
DB-ID PRPH_000005
Frequency -
Average frequency (gnomAD v.2.1.1) 0.04615 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     
PRPH NM_006262.3 ./. 6i c.1217+43C>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000382 ? ? PRPH 1 Y Yang