Variant #0000006659 (NC_000009.11:g.94843164G>T, SPTLC1(NM_006415.3):c.342C>A)

Individual ID 00006665
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94843164G>T
Reference Chunyu Li, et al. (2023)
DB-ID SPTLC1_000024
Frequency -
Average frequency (gnomAD v.2.1.1) 0 View details
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 ?/. 4 c.342C>A r.(342c>a) p.(Asn114Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006689 ? ? - 1 XY Liu