chr3:37025749:T>A Detail (hg38) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,067,240-37,067,240 View the variant detail on this assembly version. |
hg38 | chr3:37,025,749-37,025,749 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.1151T>A | NP_000240.1:p.Val384Asp |
NM_001167617.1:c.857T>A | NP_001161089.1:p.Val286Asp | |
NM_001167618.1:c.428T>A | NP_001161090.1:p.Val143Asp |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.035 |
ToMMo:0.033 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.039 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-11-01 | criteria provided, single submitter | 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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2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2020-05-27 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2014-07-24 | no assertion criteria provided | Lynch syndrome 1 |
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Detail |
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2015-07-14 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2023-07-07 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
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2022-05-10 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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Detail |
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2022-05-10 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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Detail |
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2022-05-10 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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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 | bile duct cancer |
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Detail | |
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2022-02-08 | 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 |
---|---|---|---|---|---|
0.022 | Malignant neoplasm of breast | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... | BeFree | 24338422 | Detail |
0.008 | breast carcinoma | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... | BeFree | 24338422 | Detail |
0.082 | colorectal carcinoma | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hM... | BeFree | 9526167 | Detail |
0.063 | colorectal carcinoma | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hM... | BeFree | 9526167 | Detail |
0.017 | stomach carcinoma | A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch ... | BeFree | 20177793 | Detail |
0.160 | colorectal cancer | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hM... | BeFree | 9526167 | Detail |
0.144 | colorectal cancer | In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hM... | BeFree | 9526167 | Detail |
0.025 | Malignant neoplasm of stomach | A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch ... | BeFree | 20177793 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND not specified | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Lynch syndrome 1 | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Bile duct cancer | ClinVar | Detail |
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) AND Breast and/or ovarian cancer | ClinVar | Detail |
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... | DisGeNET | Detail |
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... | DisGeNET | Detail |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patie... | DisGeNET | Detail |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patie... | DisGeNET | Detail |
A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch repair gene hMLH1. | DisGeNET | Detail |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patie... | DisGeNET | Detail |
In a search for germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1 in Chinese patie... | DisGeNET | Detail |
A new familial gastric cancer-related gene polymorphism: T1151A in the mismatch repair gene hMLH1. | 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
- rs63750447 dbSNP
- Genome
- hg38
- Position
- chr3:37,025,749-37,025,749
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 112.95
- Standard deviation of sample read depth (HGVD)
- 53.09
- Number of reference allele (HGVD)
- 2336
- Number of alternative allele (HGVD)
- 84
- Allele Frequency (HGVD)
- 0.03471074380165289
- Gene Symbol (HGVD)
- MLH1
- 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))
- rs63750447
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0333
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 558
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 333
- East Asian Heterozygous Counts (ExAC)
- 327
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.03851492019430951
- Chromosome Counts in All Race (ExAC)
- 121288
- Allele Counts in All Race (ExAC)
- 337
- Heterozygous Counts in All Race (ExAC)
- 331
- Homozygous Counts in All Race (ExAC)
- 3
- Allele Frequency in All Race (ExAC)
- 0.00277851065233164
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