Classification
Category 1
curation
CMH MAF
5 /
13144 samples
(0.038%)
5 het.,
0 hom.
(100%)
5 /
26288 total alleles
(0.019%)
Genes
gene: STX1B
synonym(s): STX1B1, STX1B2, STX1B, ENSG00000099365
NM_052874.3
[CDS]
Reportable
hgvs_c: NM_052874.3:c.845T>C
reference AA: I
variant AA: T
reference codon: aTt
variant codon: aCt
cDNA pos: 957
CDS pos: 845
translation impact: non_synonymous
protein sequence:
NP_443106.1
AA pos: 282
hgvs_p: NP_443106.1:p.Ile282Thr
blosum: -1
SIFT: deleterious (0.01)
PolyPhen2: benign (0.104)
dbSNP
rs763428520
ClinVar
265262
clinvar_significance = Uncertain_significance
clinvar_disease = Generalized epilepsy with febrile seizures plus
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 9990 |
0% |
| America/Latino |
0 / 11372 |
0% |
| East Asian |
0 / 8550 |
0% |
| Finnish |
0 / 6558 |
0% |
| Non-Finnish |
1 / 65430 |
0.00153% |
| Other |
0 / 884 |
0% |
| South Asian |
0 / 16262 |
0% |
| Total MAF |
1 / 119046 |
0.00084% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16142 |
0% |
| America/Latino |
0 / 34504 |
0% |
| Ashkenazi Jewish |
0 / 10016 |
0% |
| East Asian |
0 / 18364 |
0% |
| Finnish |
0 / 21644 |
0% |
| Non-Finnish |
3 / 112616 |
0.00266% |
| Other |
0 / 6102 |
0% |
| South Asian |
0 / 30558 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 150 |
0% |
| Other East Asian |
0 / 14396 |
0% |
| Bulgarian |
0 / 2656 |
0% |
| Estonian |
0 / 232 |
0% |
| North-Western European |
2 / 41460 |
0.00482% |
| Southern European |
0 / 11424 |
0% |
| Swedish |
1 / 26116 |
0.00383% |
| Other non-Finnish European |
0 / 30728 |
0% |
| Total MAF |
3 / 249946 |
0.0012% |
curated_classification = 1
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