chr18:51065569:TC> Detail (hg38) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,591,939-48,591,940 |
hg38 | chr18:51,065,569-51,065,570 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.1102_1103delTC | NP_005350.1:p.Ser368GlnfsTer9 |
Ensemble | ENST00000342988.8:c.1102_1103delTC | ENST00000342988.8:p.Ser368GlnfsTer9 |
ENST00000398417.6:c.1102_1103delTC | ENST00000398417.6:p.Ser368GlnfsTer9 |
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 |
---|---|---|---|---|---|
0.361 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | 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
- rs377767351 dbSNP
- Genome
- hg38
- Position
- chr18:51,065,569-51,065,570
- Variant Type
- snv
- Reference Allele
- TC
- Alternative Allele
- -
Genome browser