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Details for HNF1A:c.685C>T, p.Arg229Ter
| CHROMOSOME |
12 |
| GENOMIC COORDINATES |
| hg19 | hg38 |
|---|
| 121431481 | 120993678 |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
HNF1A |
| REFERENCE ALLELE |
C |
| ALTERNATE ALLELE |
T |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.685C>T |
| PROTEIN CHANGE |
p.Arg229Ter |
| 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 |
|---|
| 7.964e-06 | 0.0 | 2.894e-05 | 0.0 | 0.0 | 0.0 | 8.802e-06 | 0.0 | 0.0 |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| None | None | 6.507903 | Disease causing |
|
| DBSNP ID |
NA |
| 1 combination linked to HNF1A:c.685C>T, p.Arg229Ter |
OLI1027 |
| 1 disease linked to HNF1A:c.685C>T, p.Arg229Ter |
MODY |
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