Variant #0000006649 (NC_000009.11:g.94800586C>A, SPTLC1(NM_001281303.2):c.1198G>T)

Individual ID 00006655
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94800586C>A
Reference Chunyu Li, et al. (2023)
DB-ID SPTLC1_000014
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SPTLC1 NM_001281303.2 ?/. 13 c.1198G>T r.(1198g>u) (Glu400*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006679 ? ? - 1 XY Liu