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Details for CHD7:c.2053_2058dupGCAAAA, p.Lys683_Thr684insAlaLys
| CHROMOSOME |
8 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
CHD7 |
| REFERENCE ALLELE |
G |
| ALTERNATE ALLELE |
GAAAGCA |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.2053_2058dupGCAAAA |
| PROTEIN CHANGE |
p.Lys683_Thr684insAlaLys |
| ALLELE FREQUENCY |
| 1KGP |
|---|
| Global | AFR | AMR | EAS | EUR | SAS |
|---|
| None | 0.0008 | 0.0072 | 0.0 | 0.0109 | 0.0 |
| Gnomad |
|---|
| Global | AFR | AMR | ASJ | EAS | FIN | NFE | OTH | SAS |
|---|
| 0.006232 | 0.001674 | 0.007518 | 0.004316 | 0.0 | 0.002993 | 0.009788 | 0.006586 | 0.0006166 |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| None | None | 2.132207 | Polymorphism |
|
| DBSNP ID |
NA |
| 1 combination linked to CHD7:c.2053_2058dupGCAAAA, p.Lys683_Thr684insAlaLys |
OLI1167 |
| 1 disease linked to CHD7:c.2053_2058dupGCAAAA, p.Lys683_Thr684insAlaLys |
Kallmann syndrome |
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