Individual #00001664

Reference Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000)
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     
0000001664 ? ? NTRK1 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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DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
1 Unknown ./. g.156846313delT Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000007 - Y Yang NTRK1 14 NM_001007792.1:c.1646delT r.(?) p.(Leu549Argfs*73) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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