chr18:48573605:AAATGGAGC>NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN Detail (hg19) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,573,605-48,573,613 |
hg38 | chr18:51,047,235-51,047,243 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | NP_005350.1:p.Thr63?fsTer43 |
Ensemble | ENST00000342988.8:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | ENST00000342988.8:p.Thr63?fsTer43 |
ENST00000398417.6:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | ENST00000398417.6:p.Thr63?fsTer43 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.588 | juvenile polyposis syndrome | NA | CLINVAR | Detail |
Annotation
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
- rs672601247 dbSNP
- Genome
- hg19
- Position
- chr18:48,573,605-48,573,613
- Variant Type
- snv
- Reference Allele
- AAATGGAGC
- Alternative Allele
- NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
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