Classification
Category 1
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: LINS1
synonym(s): LINS1, WINS1, LINS, ENSG00000140471
ENST00000314742.8
[CDS]
Reportable
hgvs_c: ENST00000314742.8:c.982_985del
reference AA: HH
variant AA: X
reference codon: CATCat
variant codon: at
cDNA pos: 1205
CDS pos: 982
translation impact: frameshift
protein sequence:
ENSP00000318423.8
AA pos: 328
hgvs_p: ENSP00000318423.8:p.His328MetfsTer2
blosum: -1
dbSNP
rs774968400
TOPMED_MAF = 0.00000796381243628
ClinVar
120182
clinvar_significance = Pathogenic
clinvar_disease = Mental retardation
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10350 |
0% |
| America/Latino |
0 / 11572 |
0% |
| East Asian |
0 / 8648 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
2 / 66668 |
0.003% |
| Other |
0 / 908 |
0% |
| South Asian |
3 / 16504 |
0.0182% |
| Total MAF |
5 / 121264 |
0.00412% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16234 |
0% |
| America/Latino |
0 / 34586 |
0% |
| Ashkenazi Jewish |
0 / 10070 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
1 / 21642 |
0.00462% |
| Non-Finnish |
2 / 113426 |
0.00176% |
| Other |
0 / 6128 |
0% |
| South Asian |
3 / 30610 |
0.0098% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42030 |
0% |
| Southern European |
0 / 11470 |
0% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
2 / 30884 |
0.00648% |
| Total MAF |
6 / 251090 |
0.00239% |
Export Variant
Curation
Likely pathogenic