chr18:51078396:C> 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	chr18:48,604,766-48,604,766
hg38	chr18:51,078,396-51,078,396

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1588delC	NP_005350.1:p.His530ThrfsTer7
Ensemble	ENST00000398417.6:c.1588delC	ENST00000398417.6:p.His530ThrfsTer7
	ENST00000588745.5:c.1300delC	ENST00000588745.5:p.His434ThrfsTer7
	ENST00000588860.6:c.1588delC	ENST00000588860.6:p.His530ThrfsTer7
	ENST00000589076.6:c.1588delC	ENST00000589076.6:p.His530ThrfsTer7
	ENST00000589941.2:c.1588delC	ENST00000589941.2:p.His530ThrfsTer7
	ENST00000342988.8:c.1588delC	ENST00000342988.8:p.His530ThrfsTer7
	ENST00000590061.2:c.1588delC	ENST00000590061.2:p.His530ThrfsTer7
	ENST00000593223.2:c.*1585delC
	ENST00000714261.1:c.1627delC	ENST00000714261.1:p.His543ThrfsTer7
	ENST00000714264.1:c.1669delC	ENST00000714264.1:p.His557ThrfsTer7
	ENST00000714266.1:c.1375delC	ENST00000714266.1:p.His459ThrfsTer7
	ENST00000714268.1:c.1558delC	ENST00000714268.1:p.His520ThrfsTer7
	ENST00000714269.1:c.1360delC	ENST00000714269.1:p.His454ThrfsTer7
	ENST00000714270.1:c.1666delC	ENST00000714270.1:p.His556ThrfsTer7
	ENST00000714272.1:c.1564delC	ENST00000714272.1:p.His522ThrfsTer7

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	COSM6980779	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: rs377767377 dbSNP
Genome: hg38
Position: chr18:51,078,396-51,078,396
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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