chr18:48593491:A> 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	chr18:48,593,491-48,593,491
hg38	chr18:51,067,121-51,067,121

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1242delA	NP_005350.1:p.Asp415ThrfsTer21
Ensemble	ENST00000342988.8:c.1242delA	ENST00000342988.8:p.Asp415ThrfsTer21
	ENST00000398417.6:c.1242delA	ENST00000398417.6:p.Asp415ThrfsTer21
	ENST00000588745.5:c.954delA	ENST00000588745.5:p.Asp319ThrfsTer21
	ENST00000588860.6:c.1242delA	ENST00000588860.6:p.Asp415ThrfsTer21
	ENST00000589076.6:c.1242delA	ENST00000589076.6:p.Asp415ThrfsTer21
	ENST00000589941.2:c.1242delA	ENST00000589941.2:p.Asp415ThrfsTer21
	ENST00000590061.2:c.1242delA	ENST00000590061.2:p.Asp415ThrfsTer21
	ENST00000593223.2:c.1242delA	ENST00000593223.2:p.Asp415ThrfsTer21
	ENST00000714261.1:c.1281delA	ENST00000714261.1:p.Asp428ThrfsTer21
	ENST00000714264.1:c.1323delA	ENST00000714264.1:p.Asp442ThrfsTer21
	ENST00000714266.1:c.1029delA	ENST00000714266.1:p.Asp344ThrfsTer21
	ENST00000714268.1:c.1212delA	ENST00000714268.1:p.Asp405ThrfsTer21
	ENST00000714269.1:c.1014delA	ENST00000714269.1:p.Asp339ThrfsTer21
	ENST00000714270.1:c.1320delA	ENST00000714270.1:p.Asp441ThrfsTer21
	ENST00000714272.1:c.1218delA	ENST00000714272.1:p.Asp407ThrfsTer21

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-10-11	criteria provided, single submitter	juvenile polyposis syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	juvenile polyposis syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1242del (p.Asp415fs) AND Juvenile polyposis syndrome	ClinVar	Detail
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: rs377767358 dbSNP
Genome: hg19
Position: chr18:48,593,491-48,593,491
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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