An
Autosomal recessive
mode(s) within the
Bone disorders
category
Likely pathogenic
1
Pathogenic
3
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) | Duplication | Chr5:149980388 - 149980389 | Pathogenic | Frameshift variant | rs767996373 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val) | Single nucleotide variant | Chr5:149980975 | Likely pathogenic | Missense variant | rs2113698650 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) | Single nucleotide variant | Chr5:149978184 | Pathogenic | Nonsense | rs104893919 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) | Single nucleotide variant | Chr5:149980428 | Pathogenic/Likely pathogenic | Missense variant | rs104893915 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) | Deletion | Chr5:149981316 | Pathogenic | Frameshift variant | rs386833498 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution