An
Autosomal dominant
mode(s) within the
Bone disorders
category
Conflicting classifications of pathogenicity
1
Pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) | Single nucleotide variant | Chr8:38457381 | Conflicting classifications of pathogenicity | Missense variant|5 prime UTR variant | rs17175750 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) | Single nucleotide variant | Chr8:38424690 | Pathogenic | Missense variant | rs121909627 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) | Single nucleotide variant | Chr10:121520085 | Pathogenic | Missense variant|non-coding transcript variant|intron variant | rs776587763 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) | Single nucleotide variant | Chr10:121517379 | Pathogenic | Missense variant|non-coding transcript variant|intron variant | rs121918488 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution