chr14:75480472:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:75,480,472-75,518,235 |
| hg38 | chr14:75,013,769-75,051,532 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.131 | Colorectal Neoplasms | NA | CTD_human,LHGDN | Detail | |
| 0.120 | Hereditary nonpolyposis colorectal neoplasms | NA | CTD_human | Detail | |
| 0.120 | Endometrial Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Esophageal Neoplasms | NA | BeFree,CTD_human | Detail | |
| <0.001 | Gastrointestinal Neoplasms | NA | BeFree | Detail | |
| 0.003 | male infertility | NA | BeFree,GAD | Detail | |
| 0.002 | colorectal carcinoma | No association between two MLH3 variants (S845G and P844L)and colorectal cancer ... | BeFree | 15193445 | Detail |
| 0.012 | colorectal cancer | No association between two MLH3 variants (S845G and P844L)and colorectal cancer ... | BeFree | 15193445 | Detail |
| <0.001 | oligospermia | NA | BeFree | Detail | |
| 0.122 | Hereditary Nonpolyposis Colorectal Cancer | Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 pa... | BeFree | 15193445 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of ovary | NA | GAD | Detail | |
| <0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| 0.122 | Hereditary Nonpolyposis Colorectal Cancer | NA | BeFree,ORPHANET | Detail | |
| 0.012 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.003 | azoospermia | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | DisGeNET | Detail |
| No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386448489 dbSNP
- Genome
- hg19
- Position
- chr14:75,480,472-75,518,235
- Variant Type
- snv
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