chr3:129436608:C>T Detail (hg38) (MBD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:129,155,451-129,155,451 View the variant detail on this assembly version. |
hg38 | chr3:129,436,608-129,436,608 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001276273.1:c.247+1200G>A | |
NM_001276270.1:c.1036G>A | NP_001263199.1:p.Glu346Lys | |
NM_001276272.1:c.1036G>A | NP_001263201.1:p.Glu346Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.345 |
ToMMo:0.344 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.403 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | adenocarcinoma | Our findings suggest that the MBD4 Glu346Lys polymorphism could be used as a mar... | BeFree | 16803845 | Detail |
<0.001 | Carcinoma of lung | To test this hypothesis, we examined the potential association between the MBD4 ... | BeFree | 16803845 | Detail |
0.010 | Malignant neoplasm of lung | To test this hypothesis, we examined the potential association between the MBD4 ... | BeFree | 16803845 | Detail |
0.005 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.021 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.020 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
<0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
<0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.214 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.100 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
<0.001 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.010 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.003 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
0.014 | Carcinoma of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
<0.001 | Malignant neoplasm of lung | SNPs associated with lung cancer prognosis primarily mapped to 14 genes in diffe... | BeFree | 21739480 | Detail |
<0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
<0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
<0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
<0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
0.123 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys) AND not provided | ClinVar | Detail |
Our findings suggest that the MBD4 Glu346Lys polymorphism could be used as a marker for genetic susc... | DisGeNET | Detail |
To test this hypothesis, we examined the potential association between the MBD4 Glu346Lys polymorphi... | DisGeNET | Detail |
To test this hypothesis, we examined the potential association between the MBD4 Glu346Lys polymorphi... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways... | DisGeNET | Detail |
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | 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
- rs140693 dbSNP
- Genome
- hg38
- Position
- chr3:129,436,608-129,436,608
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 114.86
- Standard deviation of sample read depth (HGVD)
- 52.45
- Number of reference allele (HGVD)
- 1303
- Number of alternative allele (HGVD)
- 686
- Allele Frequency (HGVD)
- 0.34489693313222725
- Gene Symbol (HGVD)
- MBD4
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs140693
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3444
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5772
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 3485
- East Asian Heterozygous Counts (ExAC)
- 2019
- East Asian Homozygous Counts (ExAC)
- 733
- East Asian Allele Frequency (ExAC)
- 0.4029833487511563
- Chromosome Counts in All Race (ExAC)
- 121334
- Allele Counts in All Race (ExAC)
- 6183
- Heterozygous Counts in All Race (ExAC)
- 4423
- Homozygous Counts in All Race (ExAC)
- 880
- Allele Frequency in All Race (ExAC)
- 0.050958511216971335
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