chr18:48593558:G>T Detail (hg19) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,593,558-48,593,558 |
hg38 | chr18:51,067,188-51,067,188 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.1308+1G>T | |
Ensemble | ENST00000342988.8:c.1308+1G>T | |
ENST00000398417.6:c.1308+1G>T |
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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2013-09-13 | criteria provided, single submitter | Hereditary cancer-predisposing 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.1308+1G>T AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587781618 dbSNP
- Genome
- hg19
- Position
- chr18:48,593,558-48,593,558
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser