Individual #00001882



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001882 ? ? PEX7 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
6 Unknown ./. g.137143923C>A van den Brink DM1, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ.(2003) PEX7_000003 - Y Yang PEX7 1 NM_000288.3:c.120C>A r.(?) p.(Tyr40*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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