chr18:48604775:C> Detail (hg19) (SMAD4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:48,604,775-48,604,775
hg38	chr18:51,078,405-51,078,405

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1597delC	NP_005350.1:p.Leu533SerfsTer4
Ensemble	ENST00000342988.8:c.1597delC	ENST00000342988.8:p.Leu533SerfsTer4
	ENST00000398417.6:c.1597delC	ENST00000398417.6:p.Leu533SerfsTer4
	ENST00000588745.5:c.1309delC	ENST00000588745.5:p.Leu437SerfsTer4
	ENST00000588860.6:c.1597delC	ENST00000588860.6:p.Leu533SerfsTer4
	ENST00000589076.6:c.1597delC	ENST00000589076.6:p.Leu533SerfsTer4
	ENST00000589941.2:c.1597delC	ENST00000589941.2:p.Leu533SerfsTer4
	ENST00000590061.2:c.1597delC	ENST00000590061.2:p.Leu533SerfsTer4
	ENST00000593223.2:c.*1594delC
	ENST00000714261.1:c.1636delC	ENST00000714261.1:p.Leu546SerfsTer4
	ENST00000714264.1:c.1678delC	ENST00000714264.1:p.Leu560SerfsTer4
	ENST00000714266.1:c.1384delC	ENST00000714266.1:p.Leu462SerfsTer4
	ENST00000714268.1:c.1567delC	ENST00000714268.1:p.Leu523SerfsTer4
	ENST00000714269.1:c.1369delC	ENST00000714269.1:p.Leu457SerfsTer4
	ENST00000714270.1:c.1675delC	ENST00000714270.1:p.Leu559SerfsTer4
	ENST00000714272.1:c.1573delC	ENST00000714272.1:p.Leu525SerfsTer4

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

SMAD4

Type	Database	ID	Link
Gene	MIM	600993	OMIM
	HGNC	6770	HGNC
	Ensembl	ENSG00000141646	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

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

Annotations

Descrption	Source	Links
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: rs377767380 dbSNP
Genome: hg19
Position: chr18:48,604,775-48,604,775
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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