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Details for GNRHR:c.30_31delinsAA, p.Asn10_Gln11delinsLysLys
| CHROMOSOME |
4 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
GNRHR |
| REFERENCE ALLELE |
GA |
| ALTERNATE ALLELE |
TT |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.30_31delinsAA |
| PROTEIN CHANGE |
p.Asn10_Gln11delinsLysLys |
| 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 | 0.82846 | None |
|
| DBSNP ID |
NA |
| 1 combination linked to GNRHR:c.30_31delinsAA, p.Asn10_Gln11delinsLysLys |
OLI1167 |
| 1 disease linked to GNRHR:c.30_31delinsAA, p.Asn10_Gln11delinsLysLys |
Kallmann syndrome |
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