chr13:103527798:G>A Detail (hg19) (ERCC5, BIVM-ERCC5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:103,527,798-103,527,798 |
| hg38 | chr13:102,875,448-102,875,448 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000639435.1:c.4468G>A | ENST00000639435.1:p.Ala1490Thr |
| ENST00000639132.1:c.3781G>A | ENST00000639132.1:p.Ala1261Thr |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000652225.2:c.3106G>A | ENST00000652225.2:p.Ala1036Thr |
| ENST00000652613.1:c.2602G>A | ENST00000652613.1:p.Ala868Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 43690 | HGNC | |
| Ensembl | ENSG00000270181 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2021-09-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Xeroderma pigmentosum, group G |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-03-01 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Uncertain significance
|
2021-09-18 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.085 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.011 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.009 | Malignant neoplasm of breast | 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 |
| 0.001 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND not specified | ClinVar | Detail |
| NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND Xeroderma pigmentosum, group G | ClinVar | Detail |
| NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND not provided | ClinVar | Detail |
| NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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
- rs144208043 dbSNP
- Genome
- hg19
- Position
- chr13:103,527,798-103,527,798
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121340
- Allele Counts in All Race (ExAC)
- 86
- Heterozygous Counts in All Race (ExAC)
- 86
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.087522663589913E-4
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