Variant #0000006676 (NC_000009.11:g.94874789A>C, SPTLC1(NM_006415.3):c.113T>G)

Individual ID 00006682
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94874789A>C
Reference Museer A Lone, et al. (2023)
DB-ID SPTLC1_000025
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SPTLC1 NM_006415.3 ?/. 2 c.113T>G r.(113u>g) p.(Leu38Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006706 ? ? SPTLC1 1 XY Liu