Vitamin D-dependent rickets type II with alopecia
An Autosomal recessive mode(s) within the Metabolic disorders category
Benign
1
Conflicting classifications of pathogenicity
5
Likely pathogenic
1
Pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) | Single nucleotide variant | Chr7:142750600 | Conflicting classifications of pathogenicity | Missense variant | rs111033566 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000376.3(VDR):c.985G>C (p.Glu329Gln) | Single nucleotide variant | Chr12:47846374 | Conflicting classifications of pathogenicity | Missense variant | rs121909802 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000376.3(VDR):c.110A>G (p.Asn37Ser) | Single nucleotide variant | Chr12:47879004 | Uncertain significance | Missense variant | rs370473254 |
.Molecular Lab, Department of Haematology, Christian Medical College |
| NM_000376.3(VDR):c.-45A>G | Single nucleotide variant | Chr12:47882736 | Likely pathogenic | 5 prime UTR variant|missense variant|intron variant | rs752414831 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000376.3(VDR):c.148C>T (p.Arg50Ter) | Single nucleotide variant | Chr12:47865176 | Pathogenic | Nonsense | rs201106427 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000376.3(VDR):c.1025-49G>T | Single nucleotide variant | Chr12:47845054 | Conflicting classifications of pathogenicity | Intron variant | rs7975232 |
.Bioengineering and Technology, Gauhati University |
| NM_000376.3(VDR):c.803T>C (p.Ile268Thr) | Single nucleotide variant | Chr12:47846761 | Conflicting classifications of pathogenicity | Missense variant | rs1164008328 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000376.3(VDR):c.821G>A (p.Arg274His) | Single nucleotide variant | Chr12:47846743 | Pathogenic/Likely pathogenic | Missense variant | rs121909796 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000376.3(VDR):c.2T>C (p.Met1Thr) | Single nucleotide variant | Chr12:47879112 | Conflicting classifications of pathogenicity | Missense variant|initiator_codon_variant | rs2228570 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000376.3(VDR):c.1056T>C (p.Ile352=) | Single nucleotide variant | Chr12:47844974 | Benign | Synonymous variant | rs731236 |
.Bioengineering and Technology, Gauhati University |
| NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) | Single nucleotide variant | Chr12:47844859 | Pathogenic | Missense variant | rs121909800 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution