Vitamin D-dependent rickets, type 1A
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
2
Pathogenic
2
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) | Single nucleotide variant | Chr12:57763792 | Likely pathogenic | Missense variant | rs2140396224 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) | Single nucleotide variant | Chr12:57766007 | Likely pathogenic | Missense variant | rs2140397587 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) | Single nucleotide variant | Chr12:57764540 | Uncertain significance | Missense variant | rs762118198 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) | Duplication | Chr12:57766870 - 57766871 | Pathogenic | Frameshift variant | rs763437121 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) | Microsatellite | Chr12:57763698 - 57763699 | Pathogenic | Frameshift variant | rs780950819|rs780950918 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution