Peroxisome biogenesis disorder
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
3
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000466.3(PEX1):c.1670+1G>A | Single nucleotide variant | Chr7:92509328 | Likely pathogenic | Splice donor variant | rs1057517490 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_004813.4(PEX16):c.952+3A>G | Single nucleotide variant | Chr11:45910895 | Uncertain significance | Intron variant | rs2134686616 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu) | Indel | Chr22:18083444 - 18083445 | Likely pathogenic | Missense variant | rs2517670734 |
.Lifecell International Pvt. Ltd |
| NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) | Single nucleotide variant | Chr6:143479101 | Likely pathogenic | Missense variant | rs1473197986 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution