An
Autosomal dominant, Autosomal recessive
mode(s) within the
Neurodegenerative disorders
category
Conflicting classifications of pathogenicity
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_033629.6(TREX1):c.554G>C (p.Arg185Pro) | Single nucleotide variant | Chr3:48467209 | Uncertain significance | Non-coding transcript variant|missense variant|3 prime UTR variant | rs767157848 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) | Single nucleotide variant | Chr3:48467322 | Conflicting classifications of pathogenicity | Non-coding transcript variant|missense variant|3 prime UTR variant | rs766785968 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_033629.6(TREX1):c.58dup (p.Glu20fs) | Duplication | Chr3:48466711 - 48466712 | Pathogenic/Likely pathogenic | Frameshift variant|non-coding transcript variant|3 prime UTR variant | rs78300695 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution