chr18:51076740:GGCCCAGGATCAGTAGGTGGAATAG> 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	chr18:48,603,110-48,603,134
hg38	chr18:51,076,740-51,076,764

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	NP_005350.1:p.Gly471LeufsTer25
Ensemble	ENST00000342988.8:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000342988.8:p.Gly471LeufsTer25
	ENST00000398417.6:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000398417.6:p.Gly471LeufsTer25
	ENST00000588745.5:c.1123_1147delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000588745.5:p.Gly375LeufsTer25
	ENST00000588860.6:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000588860.6:p.Gly471LeufsTer25
	ENST00000589076.6:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000589076.6:p.Gly471LeufsTer25
	ENST00000589941.2:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000589941.2:p.Gly471LeufsTer25
	ENST00000590061.2:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000590061.2:p.Gly471LeufsTer25
	ENST00000593223.2:c.1411_1435delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000593223.2:p.Gly471LeufsTer13
	ENST00000714261.1:c.1450_1474delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714261.1:p.Gly484LeufsTer25
	ENST00000714264.1:c.1492_1516delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714264.1:p.Gly498LeufsTer25
	ENST00000714266.1:c.1198_1222delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714266.1:p.Gly400LeufsTer25
	ENST00000714268.1:c.1381_1405delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714268.1:p.Gly461LeufsTer25
	ENST00000714269.1:c.1183_1207delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714269.1:p.Gly395LeufsTer25
	ENST00000714270.1:c.1489_1513delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714270.1:p.Gly497LeufsTer25
	ENST00000714272.1:c.1387_1411delGGCCCAGGATCAGTAGGTGGAATAG	ENST00000714272.1:p.Gly463LeufsTer25

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: rs377767365 dbSNP
Genome: hg38
Position: chr18:51,076,740-51,076,764
Variant Type: snv
Reference Allele: GGCCCAGGATCAGTAGGTGGAATAG
Alternative Allele: -

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