Individual #00006665

Reference Chunyu Li, et al. (2023)
Ethnic origin Chinese
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     
0000006689 ? ? - 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.94843164G>T Chunyu Li, et al. (2023) SPTLC1_000024 - XY Liu SPTLC1 4 NM_006415.3:c.342C>A r.(342c>a) p.(Asn114Lys) - -
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