Fetal akinesia deformation sequence 1
An Autosomal recessive mode(s) within the Respiratory disorders category
Likely pathogenic
1
Pathogenic/Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) | Deletion | Chr4:3493497 - 3493499 | Likely pathogenic | 3 prime UTR variant|stop lost|intron variant | rs762345055 | |
| 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 |
| NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) | Single nucleotide variant | Chr11:47447853 | Pathogenic/Likely pathogenic | Missense variant | rs104894294 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution