chr13:103498217:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:103,498,217-103,528,345 |
| hg38 | chr13:102,845,867-102,875,995 |
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 | renal cell carcinoma | NA | GAD | Detail | |
| 0.006 | squamous cell carcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Carcinoma, Transitional Cell | NA | GAD | Detail | |
| 0.002 | Uterine Cervical Neoplasm | NA | GAD | Detail | |
| 0.005 | Chromosome Aberrations | NA | GAD | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.011 | Cockayne syndrome | NA | BeFree,LHGDN | Detail | |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.002 | Deafness | NA | GAD | Detail | |
| 0.002 | DNA Damage | NA | GAD | Detail | |
| 0.003 | endometriosis | NA | BeFree,GAD | Detail | |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| 0.003 | Glioma | NA | BeFree,GAD | Detail | |
| 0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.019 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | Hodgkin Disease | NA | GAD | Detail | |
| 0.005 | Kidney Neoplasm | NA | GAD | Detail | |
| 0.002 | Laryngeal neoplasm | NA | GAD | Detail | |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.002 | chronic lymphocytic leukemia | NA | GAD | Detail | |
| 0.005 | Leukemia, Myelocytic, Acute | NA | GAD | Detail | |
| 0.002 | myeloid leukemia | NA | GAD | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| 0.002 | Liver neoplasms | NA | GAD | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.003 | Lung Neoplasms | NA | LHGDN | Detail | |
| 0.003 | lymphoma | The mutant allele G of ERCC5 (CG) polymorphism was found to be protective agains... | BeFree,GAD | 25400036 | Detail |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.005 | Lymphoma, Non-Hodgkin | NA | BeFree,GAD | Detail | |
| 0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.003 | meningioma | NA | BeFree,GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | Neoplasms, Radiation-Induced | NA | GAD | Detail | |
| 0.003 | Glioma | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... | BeFree | 23534771 | Detail |
| 0.003 | meningioma | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... | BeFree | 23534771 | Detail |
| 0.003 | acoustic neuroma | NA | BeFree,GAD | Detail | |
| <0.001 | neutropenia | NA | BeFree | Detail | |
| 0.002 | Occupational Diseases | NA | GAD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Paroxysmal atrial tachycardia | NA | BeFree | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| 0.005 | Skin Neoplasms | NA | GAD | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| 0.002 | Ureteral Neoplasms | NA | GAD | Detail | |
| 0.010 | xeroderma pigmentosum | We identified a single disease locus that harbors a novel mutation in ERCC5, thu... | BeFree,LHGDN | 24354460 | Detail |
| 0.010 | xeroderma pigmentosum | This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5)... | BeFree,LHGDN | 25256075 | Detail |
| <0.001 | Ichthyosis, X-Linked | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | ERCC5 Asp1104His polymorphism showed a protective effect against the B-NHL in in... | BeFree | 25400036 | Detail |
| 0.003 | diffuse large B-cell lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Photophobia | NA | BeFree | Detail | |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| <0.001 | Liposarcoma, Myxoid | NA | BeFree | Detail | |
| <0.001 | Adenomatous Polyps | NA | BeFree | Detail | |
| 0.002 | Cervical Intraepithelial Neoplasia | NA | GAD | Detail | |
| 0.241 | cerebrooculofacioskeletal syndrome 1 | ERCC5 is a component of the nucleotide excision repair machinery and biallelic m... | BeFree,CTD_human,ORPHANET | 24700531 | Detail |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| 0.030 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Xeroderma pigmentosum, group A | NA | BeFree | Detail | |
| 0.442 | Xeroderma pigmentosum, group G | Relationship of neurologic degeneration to genotype in three xeroderma pigmentos... | UNIPROT | 12060391 | Detail |
| 0.003 | Cancer of Head and Neck | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of oropharynx | NA | BeFree | Detail | |
| <0.001 | dermatofibrosarcoma protuberans | NA | BeFree | Detail | |
| 0.003 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
| 0.005 | Malignant neoplasm of esophagus | NA | GAD | Detail | |
| <0.001 | Oropharynx (excludes nasopharynx) | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| 0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| 0.002 | Polyp of large intestine | NA | GAD | Detail | |
| 0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.006 | sarcoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | hearing impairment | NA | GAD | Detail | |
| 0.002 | Mammary Neoplasms | NA | GAD | Detail | |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.120 | CAMFAK syndrome | NA | ORPHANET | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| 0.121 | Xeroderma Pigmentosum, Type G/Cockayne Syndrome | NA | BeFree,CLINVAR | Detail | |
| 0.002 | liver carcinoma | NA | GAD | Detail | |
| 0.002 | Oropharyngeal Carcinoma | NA | GAD | Detail | |
| 0.120 | Pena Shokeir syndrome Type 2 | NA | ORPHANET | Detail | |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| 0.002 | Hearing Loss | NA | GAD | Detail | |
| <0.001 | Arthrogryposis | A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogry... | BeFree | 24700531 | Detail |
| 0.020 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.002 | Bone neoplasms | NA | GAD | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.019 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.002 | Breast Diseases | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of larynx | NA | BeFree,GAD | Detail | |
| 0.002 | Non-small cell lung carcinoma | We conducted a cohort study to investigate whether 3 potential single nucleotide... | BeFree | 25729984 | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The mutant allele G of ERCC5 (CG) polymorphism was found to be protective against lymphoma (p = 0.01... | 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 |
| In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... | DisGeNET | Detail |
| In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... | 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 |
| We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that th... | DisGeNET | Detail |
| This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (X... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ERCC5 Asp1104His polymorphism showed a protective effect against the B-NHL in individuals carrying t... | 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 |
| ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. | 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 |
| 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 |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evide... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We conducted a cohort study to investigate whether 3 potential single nucleotide polymorphisms (SNPs... | 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
- rs28929496 dbSNP
- Genome
- hg19
- Position
- chr13:103,498,217-103,528,345
- Variant Type
- snv
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