Individual #00004749

Reference Navon R1, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.(1995)
Ethnic origin -
Remarks -
Panel size 1
Diseases SMA
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


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Owner     
0000004749 ? ? HEXA 1 Y Yang



Variants

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AscendingDNA change (genomic) (hg19)     

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15 Unknown ./. g.72639027C>T Navon R1, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.(1995) HEXA_000001 - Y Yang HEXA 11 NM_000520.4:c.1171G>A r.(?) p.(Val391Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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