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Details for AR:c.1995delTGAAGGCTATGAATGTCinsCAGAA, p.666delGluGlyTyrGluCysGlninsArgLys
| CHROMOSOME |
X |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
insertion |
| ANNOTATION FLAG |
not_found_in_databases |
| GENE |
AR |
| REFERENCE ALLELE |
None |
| ALTERNATE ALLELE |
None |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.1995delTGAAGGCTATGAATGTCinsCAGAA |
| PROTEIN CHANGE |
p.666delGluGlyTyrGluCysGlninsArgLys |
| 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 | None | None | None |
|
| DBSNP ID |
NA |
| 1 combination linked to AR:c.1995delTGAAGGCTATGAATGTCinsCAGAA, p.666delGluGlyTyrGluCysGlninsArgLys |
OLI299 |
| 1 disease linked to AR:c.1995delTGAAGGCTATGAATGTCinsCAGAA, p.666delGluGlyTyrGluCysGlninsArgLys |
Non-syndromic posterior hypospadias |
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