chr18:48591808:G> 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	chr18:48,591,808-48,591,808
hg38	chr18:51,065,438-51,065,438

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.971delG	NP_005350.1:p.Cys324PhefsTer12
Ensemble	ENST00000342988.8:c.971delG	ENST00000342988.8:p.Cys324PhefsTer12
	ENST00000398417.6:c.971delG	ENST00000398417.6:p.Cys324PhefsTer12
	ENST00000588745.5:c.683delG	ENST00000588745.5:p.Cys228PhefsTer12
	ENST00000588860.6:c.971delG	ENST00000588860.6:p.Cys324PhefsTer12
	ENST00000589076.6:c.971delG	ENST00000589076.6:p.Cys324PhefsTer12
	ENST00000589941.2:c.971delG	ENST00000589941.2:p.Cys324PhefsTer12
	ENST00000590061.2:c.971delG	ENST00000590061.2:p.Cys324PhefsTer12
	ENST00000593223.2:c.971delG	ENST00000593223.2:p.Cys324PhefsTer12
	ENST00000714261.1:c.1010delG	ENST00000714261.1:p.Cys337PhefsTer12
	ENST00000714264.1:c.1052delG	ENST00000714264.1:p.Cys351PhefsTer12
	ENST00000714266.1:c.758delG	ENST00000714266.1:p.Cys253PhefsTer12
	ENST00000714268.1:c.941delG	ENST00000714268.1:p.Cys314PhefsTer12
	ENST00000714269.1:c.971delG	ENST00000714269.1:p.Cys324PhefsTer15
	ENST00000714270.1:c.1049delG	ENST00000714270.1:p.Cys350PhefsTer12
	ENST00000714272.1:c.947delG	ENST00000714272.1:p.Cys316PhefsTer12

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: rs377767340 dbSNP
Genome: hg19
Position: chr18:48,591,808-48,591,808
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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