Variant #0000006660 (NC_000014.8:g.77978635C>T, SPTLC2(NM_004863.3):c.1681G>A)

Individual ID 00006666
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77978635C>T
Reference Chunyu Li, et al. (2023)
DB-ID SPTLC2_000005
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     
SPTLC2 NM_004863.3 ?/. 12 c.1681G>A r.(?) p.(Glu561Lys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006690 ? ? - 1 XY Liu