chr18:51047235:AAATGGAGC>NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN Detail (hg38) (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	chr18:48,573,605-48,573,613 View the variant detail on this assembly version.
hg38	chr18:51,047,235-51,047,243

HGVS

SMAD4

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
	ENST00000588745.5:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000588745.5:p.Thr63?fsTer43
	ENST00000588860.6:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000588860.6:p.Thr63?fsTer43
	ENST00000589076.6:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000589076.6:p.Thr63?fsTer43
	ENST00000589941.2:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000589941.2:p.Thr63?fsTer43
	ENST00000590061.2:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000590061.2:p.Thr63?fsTer43
	ENST00000593223.2:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000593223.2:p.Thr63?fsTer43
	ENST00000714261.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714261.1:p.Thr63?fsTer43
	ENST00000714264.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714264.1:p.Thr63?fsTer43
	ENST00000714266.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714266.1:p.Thr63?fsTer43
	ENST00000714268.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714268.1:p.Thr63?fsTer43
	ENST00000714269.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714269.1:p.Thr63?fsTer43
	ENST00000714270.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714270.1:p.Thr63?fsTer43
	ENST00000714272.1:c.189_197delinsNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	ENST00000714272.1:p.Thr63?fsTer43

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
0.588	juvenile polyposis syndrome	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: rs672601247 dbSNP
Genome: hg38
Position: chr18:51,047,235-51,047,243
Variant Type: snv
Reference Allele: AAATGGAGC
Alternative Allele: NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN

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