Full data view for gene PEX7

Information The variants shown are described using the NM_000288.3 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.40A>C r.(?) p.(Thr14Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.137143843A>C 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_000002 - ? ? HMSN 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) - - 1 Y Yang
./. 1 c.120C>A r.(?) p.(Tyr40*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation 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 - ? ? HMSN 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) - - 1 Y Yang
./. 4 c.345T>A r.(?) p.(Tyr115*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.137166758T>A Braverman N1, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.(2002) PEX7_000001 - ? ? HMSN Braverman N1, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.(2002) - - 1 Y Yang
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