chr3:37092019:G>A Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,092,019-37,092,019 |
hg38 | chr3:37,050,528-37,050,528 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.2146G>A | NP_000240.1:p.Val716Met |
NM_001167617.1:c.1852G>A | NP_001161089.1:p.Val618Met | |
NM_001167618.1:c.1423G>A | NP_001161090.1:p.Val475Met |
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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2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2023-01-24 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2019-05-28 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
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2024-02-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2022-12-16 | criteria provided, single submitter | Breast and/or ovarian cancer |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Hereditary pancreatitis | Second, the samples from Finnish hereditary prostate cancer (HPC) families were ... | BeFree | 16963262 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND not specified | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Malignant tumor of breast | ClinVar | Detail |
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) AND Breast and/or ovarian cancer | ClinVar | Detail |
Second, the samples from Finnish hereditary prostate cancer (HPC) families were used for the screeni... | 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
- rs35831931 dbSNP
- Genome
- hg19
- Position
- chr3:37,092,019-37,092,019
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8590
- 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)
- 121234
- Allele Counts in All Race (ExAC)
- 148
- Heterozygous Counts in All Race (ExAC)
- 148
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.001220779649273306
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