Individual #00001741

Reference Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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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Variants found     

Owner     
0000001741 ? ? MPZ 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/DNA     

Variant/VariO/protein     
1 Unknown ./. g.161276537C>T Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996) MPZ_000009 - Y Yang MPZ 3 NM_000530.6:c.409G>A r.(?) p.(Gly137Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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