Variant #0000001640 (NC_000009.11:g.94809543G>A, SPTLC1(NM_006415.3):c.992C>T)
Individual ID |
00001640 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94809543G>A |
Reference |
Rotthier A1, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.(2009) |
DB-ID |
SPTLC1_000004 See all 2 reported entries |
Frequency |
ADMIN |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|