chr18:51078402:G> 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	chr18:48,604,772-48,604,772
hg38	chr18:51,078,402-51,078,402

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1594delG	NP_005350.1:p.Ala532ProfsTer5
Ensemble	ENST00000342988.8:c.1594delG	ENST00000342988.8:p.Ala532ProfsTer5
	ENST00000398417.6:c.1594delG	ENST00000398417.6:p.Ala532ProfsTer5
	ENST00000588745.5:c.1306delG	ENST00000588745.5:p.Ala436ProfsTer5
	ENST00000588860.6:c.1594delG	ENST00000588860.6:p.Ala532ProfsTer5
	ENST00000589076.6:c.1594delG	ENST00000589076.6:p.Ala532ProfsTer5
	ENST00000589941.2:c.1594delG	ENST00000589941.2:p.Ala532ProfsTer5
	ENST00000590061.2:c.1594delG	ENST00000590061.2:p.Ala532ProfsTer5
	ENST00000593223.2:c.*1591delG
	ENST00000714261.1:c.1633delG	ENST00000714261.1:p.Ala545ProfsTer5
	ENST00000714264.1:c.1675delG	ENST00000714264.1:p.Ala559ProfsTer5
	ENST00000714266.1:c.1381delG	ENST00000714266.1:p.Ala461ProfsTer5
	ENST00000714268.1:c.1564delG	ENST00000714268.1:p.Ala522ProfsTer5
	ENST00000714269.1:c.1366delG	ENST00000714269.1:p.Ala456ProfsTer5
	ENST00000714270.1:c.1672delG	ENST00000714270.1:p.Ala558ProfsTer5
	ENST00000714272.1:c.1570delG	ENST00000714272.1:p.Ala524ProfsTer5

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	COSM1389108	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	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: rs377767378 dbSNP
Genome: hg38
Position: chr18:51,078,402-51,078,402
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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