chr18:48593488:C>A Detail (hg19) (SMAD4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr18:48,593,488-48,593,488 |
hg38 | chr18:51,067,118-51,067,118 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005359.5:c.1239C>A | NP_005350.1:p.Tyr413Ter |
Ensemble | ENST00000342988.8:c.1239C>A | ENST00000342988.8:p.Tyr413Ter |
ENST00000398417.6:c.1239C>A | ENST00000398417.6:p.Tyr413Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.1239C>A (p.Tyr413Ter) AND not provided | ClinVar | Detail |
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) AND Juvenile polyposis syndrome | 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
- rs730881954 dbSNP
- Genome
- hg19
- Position
- chr18:48,593,488-48,593,488
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser