Individual #00006682

Reference Museer A Lone, et al. (2023)
Ethnic origin -
Remarks -
Panel size 1
Diseases ALS
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006706 ? ? SPTLC1 1 XY Liu



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.94874789A>C Museer A Lone, et al. (2023) SPTLC1_000025 - XY Liu SPTLC1 2 NM_006415.3:c.113T>G r.(113u>g) p.(Leu38Arg) - -
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