chr2:47403411:C>A Detail (hg38) (MSH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:47,630,550-47,630,550 View the variant detail on this assembly version. |
hg38 | chr2:47,403,411-47,403,411 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000251.2:c.211+9C>A | |
NM_001258281.1:c.13+9C>A | ||
Ensemble | ENST00000233146.7:c.211+9C>A |
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 |
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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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2024-01-25 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2017-02-21 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2017-01-31 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
0.001 | gallbladder carcinoma | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
<0.001 | Malignant neoplasm of gallbladder | Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... | BeFree | 21283657 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000251.3(MSH2):c.211+9C>A AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000251.3(MSH2):c.211+9C>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000251.3(MSH2):c.211+9C>A AND not specified | ClinVar | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G>C (rs2303426), ER... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2303426 dbSNP
- Genome
- hg38
- Position
- chr2:47,403,411-47,403,411
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 6418
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.6743533811156125E-4
- Chromosome Counts in All Race (ExAC)
- 80162
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.7424215962675585E-5
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