Full data view for gene RAB7A

Information The variants shown are described using the NM_004637.5 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)     

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DB-ID     

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Technique     

Disease     

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Owner     
./. 6 c.482A>C r.(?) p.(Asn161Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.128526468A>C Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) RAB7A_000003 - ? ? HSAN Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) - - 1 Y Yang
./. 5 c.482A>C r.(?) p.(Asn161Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.128526468A>C Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012) RAB7A_000003 - ? ? HSAN "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - 1 Y Yang
./. 6 c.482A>C r.(?) p.(Asn161Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.128526468A>C Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) RAB7A_000003 - ? ? HMSN Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) - - 1 Y Yang
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