chr18:48603050:GCGGCTACTGCACAAGCTGCAGCAG> Detail (hg19) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,603,050-48,603,074 |
hg38 | chr18:51,076,680-51,076,704 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG | NP_005350.1:p.Ala451LeufsTer17 |
Ensemble | ENST00000342988.8:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG | ENST00000342988.8:p.Ala451LeufsTer17 |
ENST00000398417.6:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG | ENST00000398417.6:p.Ala451LeufsTer17 |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-04-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2021-05-10 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-12-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection |
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Detail |
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2017-12-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome,Familial thoracic aortic aneurysm and aortic dissection |
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Detail |
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2023-07-14 | criteria provided, single submitter | juvenile polyposis 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 |
---|---|---|---|---|---|
0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND not provided | ClinVar | Detail |
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND multiple conditions | ClinVar | Detail |
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Juvenile polyposis syndrome | ClinVar | Detail |
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) AND Juvenile polyposis/hereditary hemorrhagic telangi... | 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
- rs587780124 dbSNP
- Genome
- hg19
- Position
- chr18:48,603,050-48,603,074
- Variant Type
- snv
- Reference Allele
- GCGGCTACTGCACAAGCTGCAGCAG
- Alternative Allele
- -
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