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Details for KIF14:c.(1367+1_1368-1)_(4567+1_4568-1)del,
| CHROMOSOME |
1 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
KIF14 |
| REFERENCE ALLELE |
None |
| ALTERNATE ALLELE |
None |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.(1367+1_1368-1)_(4567+1_4568-1)del |
| PROTEIN CHANGE |
None |
| ALLELE FREQUENCY |
| 1KGP |
|---|
| Global | AFR | AMR | EAS | EUR | SAS |
|---|
| None | None | None | None | None | None |
| Gnomad |
|---|
| Global | AFR | AMR | ASJ | EAS | FIN | NFE | OTH | SAS |
|---|
| None | None | None | None | None | None | None | None | None |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| - | - | None | - |
|
| DBSNP ID |
NA |
| 1 combination linked to KIF14:c.(1367+1_1368-1)_(4567+1_4568-1)del, |
OLI1371 |
| 1 disease linked to KIF14:c.(1367+1_1368-1)_(4567+1_4568-1)del, |
Meckel syndrome |
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