Autosomal dominant hypophosphatemic rickets
An Autosomal dominant mode(s) within the Bone disorders category
Pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) | Single nucleotide variant | Chr12:4370563 | Pathogenic | Missense variant | rs193922702 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi .Lifecell International Pvt. Ltd |
| NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) | Single nucleotide variant | ChrX:22247942 | Pathogenic/Likely pathogenic | Nonsense|3 prime UTR variant | rs886041227 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution