chr19:44056235:C>T Detail (hg19) (XRCC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:44,056,235-44,056,235 |
| hg38 | chr19:43,552,083-43,552,083 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006297.2:c.923G>A | NP_006288.2:p.Arg308Gln |
| Ensemble | ENST00000262887.10:c.1016G>A | ENST00000262887.10:p.Arg339Gln |
| ENST00000543982.5:c.923G>A | ENST00000543982.5:p.Arg308Gln |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2020-07-30 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.018 | Malignant neoplasm of stomach | XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer ri... | BeFree | 25335737 | Detail |
| 0.008 | stomach carcinoma | XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer ri... | BeFree | 25335737 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006297.3(XRCC1):c.1016G>A (p.Arg339Gln) AND not provided | ClinVar | Detail |
| XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence base... | DisGeNET | Detail |
| XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence base... | 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
- rs377566281 dbSNP
- Genome
- hg19
- Position
- chr19:44,056,235-44,056,235
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.311604253351826E-4
- Chromosome Counts in All Race (ExAC)
- 121372
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.9434795504729264E-5
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