An
Autosomal recessive
mode(s) within the
Bone disorders
category
Likely pathogenic
3
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg) | Single nucleotide variant | Chr1:21872187 | Uncertain significance | Missense variant | rs2550748902 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr) | Single nucleotide variant | Chr1:21857383 | Likely pathogenic | Missense variant | rs1239294172 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter) | Single nucleotide variant | Chr1:21830033 | Likely pathogenic | Nonsense | rs1215934207 |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
| NM_005529.7(HSPG2):c.4740+5G>A | Single nucleotide variant | Chr1:21864095 | Likely pathogenic | Intron variant | rs886039909 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution