Full data view for gene PRPH

Information The variants shown are described using the NM_006262.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.49689404G>T Gros-Louis F1, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP.(2004) PRPH_000003 - ? ? ALS Gros-Louis F1, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP.(2004) - - 1 Y Yang
./. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.49689404G>T Leung CL1, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP.(2004) PRPH_000003 - ? ? ALS Leung CL1, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP.(2004) - - 1 Y Yang
+?/. 1 c.421G>T r.(?) p.(Asp141Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Both (homozygous) g.49689404G>T Corrado L1, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S.(2001) PRPH_000003 - ? ? ALS Corrado L1, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S.(2001) Italian - 1 Y Yang
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