Classification
Category 2
frameshift
CMH MAF
7 /
13144 samples
(0.0533%)
7 het.,
0 hom.
(100%)
7 /
26288 total alleles
(0.0266%)
Genes
gene: LINS1
synonym(s): LINS1, WINS1, LINS, ENSG00000140471
ENST00000314742.8
[CDS]
Reportable
hgvs_c: ENST00000314742.8:c.431del
reference AA: L
variant AA: X
reference codon: tTa
variant codon: ta
cDNA pos: 654
CDS pos: 431
translation impact: frameshift
protein sequence:
ENSP00000318423.8
AA pos: 144
hgvs_p: ENSP00000318423.8:p.Leu144TyrfsTer17
blosum: -1
dbSNP
rs764442764
TOPMED_MAF = 0.00004778287461773
ClinVar
445417
clinvar_significance = Likely_pathogenic
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000242,0.000000,0.000160
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 9676 |
0% |
| America/Latino |
0 / 11176 |
0% |
| East Asian |
0 / 8248 |
0% |
| Finnish |
0 / 6416 |
0% |
| Non-Finnish |
3 / 62370 |
0.00481% |
| Other |
0 / 888 |
0% |
| South Asian |
0 / 15824 |
0% |
| Total MAF |
3 / 114598 |
0.00262% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24858 |
0.00805% |
| America/Latino |
0 / 35278 |
0% |
| Ashkenazi Jewish |
0 / 10358 |
0% |
| East Asian |
0 / 19916 |
0% |
| Finnish |
0 / 25074 |
0% |
| Non-Finnish |
6 / 128456 |
0.00467% |
| Other |
1 / 7184 |
0.0139% |
| South Asian |
0 / 30576 |
0% |
| Korean |
0 / 3786 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2660 |
0% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
5 / 50696 |
0.00986% |
| Southern European |
0 / 11576 |
0% |
| Swedish |
1 / 25680 |
0.00389% |
| Other non-Finnish European |
0 / 33014 |
0% |
| Total MAF |
9 / 281700 |
0.00319% |
Export Variant