Individual #00001709



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001709 ? ? SPTLC1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
9 Unknown ./. g.94809543G>T Auer-Grumbach M1, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.(2013) SPTLC1_000007 - Y Yang SPTLC1 11 NM_006415.3:c.992C>A r.(?) p.(Ser331Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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