Classification
Category 3
non_synonymous
CMH MAF
21 /
8745 samples
(0.24%)
21 het.,
0 hom.
(100%)
21 /
17490 total alleles
(0.12%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: PPT1
synonym(s): CLN1, INCL, PPT, PPT1, ENSG00000131238
NM_000310.3
[CDS]
Reportable
hgvs_c: NM_000310.3:c.904A>G
reference AA: I
variant AA: V
reference codon: Ata
variant codon: Gta
cDNA pos: 1136
CDS pos: 904
translation impact: non_synonymous
protein sequence:
NP_000301.1
AA pos: 302
hgvs_p: NP_000301.1:p.Ile302Val
blosum: 3
SIFT: tolerated (0.32)
PolyPhen2: benign (0.016)
NM_001142604.1
[CDS]
hgvs_c: NM_001142604.1:c.595A>G
reference AA: I
variant AA: V
reference codon: Ata
variant codon: Gta
cDNA pos: 827
CDS pos: 595
translation impact: non_synonymous
protein sequence:
NP_001136076.1
AA pos: 199
hgvs_p: NP_001136076.1:p.Ile199Val
blosum: 3
SIFT: tolerated (0.3)
PolyPhen2: benign (0.005)
dbSNP
rs146902902
GMAF = 0.0003994
TOPMED_MAF = 0.00081230886850152
ClinVar
199009
clinvar_significance = Uncertain_significance
clinvar_disease = Ceroid lipofuscinosis neuronal 1
clinvar_disease = Neuronal Ceroid-Lipofuscinosis
clinvar_submission_scv = SCV000510906.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000698,0.000454,0.000615
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
5 / 10406 |
0.048% |
| America/Latino |
19 / 11578 |
0.164% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
9 / 6612 |
0.136% |
| Non-Finnish |
115 / 66730 |
0.172% |
| Other |
0 / 908 |
0% |
| South Asian |
11 / 16512 |
0.0666% |
| Total MAF |
159 / 121400 |
0.131% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
9 / 24032 |
0.0375% |
| America/Latino |
32 / 34418 |
0.093% |
| Ashkenazi Jewish |
0 / 10152 |
0% |
| East Asian |
0 / 18870 |
0% |
| Finnish |
25 / 25782 |
0.097% |
| Non-Finnish |
218 / 126644 |
0.172% |
| Other |
10 / 6464 |
0.155% |
| South Asian |
25 / 30782 |
0.0812% |
| Total MAF |
319 / 277144 |
0.115% |
Export Variant