An
Autosomal dominant
mode(s) within the
Cancer disorders
category
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000546.6(TP53):c.861del (p.Asn288fs) | Deletion | Chr17:7673759 | Pathogenic | Frameshift variant|non-coding transcript variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000546.6(TP53):c.289G>A (p.Val97Ile) | Single nucleotide variant | Chr17:7676080 | Uncertain significance | Missense variant | rs730882023 | |
| NM_000546.6(TP53):c.817C>T (p.Arg273Cys) | Single nucleotide variant | Chr17:7673803 | Pathogenic/Likely pathogenic | Missense variant | rs121913343 |
.Biotechnology, Institute of Science, Nirma University .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) | Single nucleotide variant | Chr17:7670678 | Likely pathogenic | Missense variant|3 prime UTR variant | rs121912662 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution