chr18:51065549:G>A Detail (hg38) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,591,919-48,591,919 View the variant detail on this assembly version. |
hg38 | chr18:51,065,549-51,065,549 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.1082G>A | NP_005350.1:p.Arg361His |
Ensemble | ENST00000593223.2:c.1082G>A | ENST00000593223.2:p.Arg361His |
ENST00000714261.1:c.1121G>A | ENST00000714261.1:p.Arg374His |
Summary
MGeND
Clinical significance |
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Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2017/11/30 | lung adenocarcinoma (metastasis) |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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2018/03/08 | colon cancer |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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2018/04/12 | Gall bladder cancer |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
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colorectal neoplasms, hereditary nonpolyposis |
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MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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Detail |
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2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
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Detail |
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2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2020-11-20 | criteria provided, single submitter | not provided |
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Detail |
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2022-06-22 | criteria provided, multiple submitters, no conflicts | juvenile polyposis syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Generalized juvenile polyposis/juvenile polyposis coli,Carcinoma of pancreas,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Myhre syndrome |
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Detail |
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2021-10-28 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome |
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Detail |
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2021-10-28 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome |
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Detail |
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2024-02-09 | criteria provided, single submitter | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.361 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Neoplasm of uterine cervix | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Carcinoma of esophagus | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Pancreatic adenocarcinoma | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Lung adenocarcinoma | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Gastric adenocarcinoma | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Breast neoplasm | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND not provided | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Juvenile polyposis syndrome | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) AND Juvenile polyposis/hereditary hemorrhagic telangiecta... | ClinVar | Detail |
NA | 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
- rs377767347 dbSNP
- Genome
- hg38
- Position
- chr18:51,065,549-51,065,549
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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