Autoimmune lymphoproliferative syndrome
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Likely pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000043.6(FAS):c.776T>C (p.Ile259Thr) | Single nucleotide variant | Chr10:89014218 | Likely pathogenic | Missense variant|3 prime UTR variant|non-coding transcript variant | rs1848675068 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) | Single nucleotide variant | Chr12:25225628 | Pathogenic/Likely pathogenic | Missense variant | rs121913527 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) | Single nucleotide variant | Chr1:114716126 | Pathogenic/Likely pathogenic | Missense variant | rs121913237 |
.Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution