Classification
Category 1
CMH MAF
9 /
13144 samples
(0.0685%)
9 het.,
0 hom.
(100%)
9 /
26288 total alleles
(0.0342%)
Genes
gene: TBC1D24
synonym(s): FIME, TLDC6, TBC1D24, ENSG00000162065
NM_001199107.1
[CDS]
Reportable
hgvs_c: NM_001199107.1:c.845C>G
reference AA: P
variant AA: R
reference codon: cCt
variant codon: cGt
cDNA pos: 985
CDS pos: 845
translation impact: non_synonymous
protein sequence:
NP_001186036.1
AA pos: 282
hgvs_p: NP_001186036.1:p.Pro282Arg
blosum: -2
SIFT: deleterious (0.03)
PolyPhen2: possibly_damaging (0.836)
NM_020705.2
[CDS]
hgvs_c: NM_020705.2:c.845C>G
reference AA: P
variant AA: R
reference codon: cCt
variant codon: cGt
cDNA pos: 985
CDS pos: 845
translation impact: non_synonymous
protein sequence:
NP_065756.1
AA pos: 282
hgvs_p: NP_065756.1:p.Pro282Arg
blosum: -2
SIFT: deleterious (0.03)
PolyPhen2: probably_damaging (0.921)
dbSNP
rs747538224
TOPMED_MAF = 0.00007963812436289
ClinVar
207505
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = developmental delay with seizures
clinvar_disease = Inborn genetic diseases
clinvar_disease = Epileptic encephalopathy
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 9774 |
0% |
| America/Latino |
21 / 11568 |
0.182% |
| East Asian |
0 / 8594 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
0 / 66492 |
0% |
| Other |
0 / 894 |
0% |
| South Asian |
0 / 16508 |
0% |
| Total MAF |
21 / 120442 |
0.0174% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24214 |
0% |
| America/Latino |
45 / 35374 |
0.127% |
| Ashkenazi Jewish |
0 / 10354 |
0% |
| East Asian |
0 / 19532 |
0% |
| Finnish |
0 / 24974 |
0% |
| Non-Finnish |
0 / 128584 |
0% |
| Other |
1 / 7146 |
0.014% |
| South Asian |
0 / 30602 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 14020 |
0% |
| Bulgarian |
0 / 2660 |
0% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
0 / 50586 |
0% |
| Southern European |
0 / 11512 |
0% |
| Swedish |
0 / 26094 |
0% |
| Other non-Finnish European |
0 / 32902 |
0% |
| Total MAF |
46 / 280780 |
0.0164% |
Export Variant