chr9:35073839:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:35,073,836-35,079,939 |
| hg38 | chr9:35,073,839-35,079,942 |
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 |
|---|---|---|---|---|---|
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.002 | Esophageal Neoplasms | NA | GAD | Detail | |
| 0.373 | Fanconi anemia | Hematological consequences of a FANCG founder mutation in Black South African pa... | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET | 25477267 | Detail |
| 0.373 | Fanconi anemia | Founder haplotype analysis of Fanconi anemia in the Korean population finds comm... | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET | 25703136 | Detail |
| <0.001 | Foot-and-Mouth Disease | NA | BeFree | Detail | |
| 0.002 | Head and Neck Neoplasms | NA | GAD | Detail | |
| 0.002 | Laryngeal neoplasm | NA | GAD | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.120 | Mouth Diseases | NA | CTD_human | Detail | |
| 0.002 | Mouth Neoplasms | NA | GAD | Detail | |
| <0.001 | Pancreatic Neoplasm | NA | BeFree | Detail | |
| <0.001 | pancytopenia | Our results showed that patients, homozygous for the FANCG founder mutation, pre... | BeFree | 25477267 | Detail |
| 0.002 | Pharyngeal Neoplasms | NA | GAD | Detail | |
| 0.002 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of prostate | NA | GAD | Detail | |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| <0.001 | Optic Atrophy, Hereditary, Leber | Patients presented with typical LHON phenotype with bilateral visual acuity loss... | BeFree | 25690485 | Detail |
| 0.002 | colorectal cancer | NA | GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Pancreatic carcinoma, familial | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.007 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | Hematological consequences of a FANCG founder mutation in Black South African pa... | BeFree | 25477267 | Detail |
| 0.007 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | Founder haplotype analysis of Fanconi anemia in the Korean population finds comm... | BeFree | 25703136 | Detail |
| 0.120 | Fanconi anemia complementation group G | NA | BeFree,UNIPROT | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of breast | NA | GAD | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi ... | DisGeNET | Detail |
| Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haploty... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results showed that patients, homozygous for the FANCG founder mutation, present with severe cyt... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients presented with typical LHON phenotype with bilateral visual acuity loss, abnormal color vis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi ... | DisGeNET | Detail |
| Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haploty... | 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
- rs386493716 dbSNP
- Genome
- hg38
- Position
- chr9:35,073,839-35,079,942
- Variant Type
- snv
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