chr18:51054842:GTCCACTGAAGG> 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	chr18:48,581,212-48,581,223
hg38	chr18:51,054,842-51,054,853

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.516_527delGTCCACTGAAGG	NP_005350.1:p.Ser173_Gly176del
Ensemble	ENST00000342988.8:c.516_527delGTCCACTGAAGG	ENST00000342988.8:p.Ser173_Gly176del
	ENST00000398417.6:c.516_527delGTCCACTGAAGG	ENST00000398417.6:p.Ser173_Gly176del
	ENST00000588745.5:c.516_527delGTCCACTGAAGG	ENST00000588745.5:p.Ser173_Gly176del
	ENST00000588860.6:c.516_527delGTCCACTGAAGG	ENST00000588860.6:p.Ser173_Gly176del
	ENST00000589076.6:c.516_527delGTCCACTGAAGG	ENST00000589076.6:p.Ser173_Gly176del
	ENST00000589941.2:c.516_527delGTCCACTGAAGG	ENST00000589941.2:p.Ser173_Gly176del
	ENST00000590061.2:c.516_527delGTCCACTGAAGG	ENST00000590061.2:p.Ser173_Gly176del
	ENST00000593223.2:c.516_527delGTCCACTGAAGG	ENST00000593223.2:p.Ser173_Gly176del
	ENST00000714261.1:c.555_566delGTCCACTGAAGG	ENST00000714261.1:p.Ser186_Gly189del
	ENST00000714264.1:c.516_527delGTCCACTGAAGG	ENST00000714264.1:p.Ser173_Gly176del
	ENST00000714266.1:c.455-3283_455-3272delGTCCACTGAAGG
	ENST00000714268.1:c.486_497delGTCCACTGAAGG	ENST00000714268.1:p.Ser163_Gly166del
	ENST00000714269.1:c.516_527delGTCCACTGAAGG	ENST00000714269.1:p.Ser173_Gly176del
	ENST00000714270.1:c.594_605delGTCCACTGAAGG	ENST00000714270.1:p.Ser199_Gly202del
	ENST00000714272.1:c.516_527delGTCCACTGAAGG	ENST00000714272.1:p.Ser173_Gly176del

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: rs377767330 dbSNP
Genome: hg38
Position: chr18:51,054,842-51,054,853
Variant Type: snv
Reference Allele: GTCCACTGAAGG
Alternative Allele: -

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