Individual #00001637

Reference Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001)
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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Variants found     

Owner     
0000001637 ? ? SPTLC1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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RNA change     

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Variant/VariO/protein     
9 Unknown ./. g.94842327C>T Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001) SPTLC1_000001 - Y Yang SPTLC1 5 NM_006415.3:c.398G>A r.(?) p.(Cys133Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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