Variant #0000006650 (NC_000009.11:g.94809456G>A, SPTLC1(NM_001281303.2):c.1079C>T)

Individual ID 00006656
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94809456G>A
Reference Chunyu Li, et al. (2023)
DB-ID SPTLC1_000015
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_001281303.2 ?/. 11 c.1079C>T r.(1079c>u) p.(Pro360Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006680 ? ? - 1 XY Liu