Fetal akinesia deformation sequence 3
An Autosomal recessive mode(s) within the Respiratory disorders category
Likely pathogenic
2
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001367561.1(DOCK7):c.1511_1513del (p.Pro504_Ile505delinsLeu) | Deletion | Chr1:62619906 - 62619908 | Likely pathogenic | Inframe_indel | rs2522881217 |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
| NM_173660.5(DOK7):c.68G>A (p.Trp23Ter) | Single nucleotide variant | Chr4:3463519 | Likely pathogenic | Nonsense | rs2109312461 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_173660.5(DOK7):c.1378dup (p.Gln460fs) | Duplication | Chr4:3493358 - 3493359 | Pathogenic/Likely pathogenic | 3 prime UTR variant|frameshift variant | rs606231133 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_173660.5(DOK7):c.1263dup (p.Ser422fs) | Duplication | Chr4:3493242 - 3493243 | Pathogenic/Likely pathogenic | Frameshift variant|3 prime UTR variant | rs606231129 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution