Individual #00001647

Reference Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004)
Ethnic origin -
Remarks -
Panel size 1
Diseases HSAN
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000001647 ? ? RAB7A 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Exon     

DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
3 Unknown ./. g.128526468A>C Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) RAB7A_000003 - Y Yang RAB7A 6 NM_004637.5:c.482A>C r.(?) p.(Asn161Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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