chr18:51065504: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	chr18:48,591,874-48,591,874
hg38	chr18:51,065,504-51,065,504

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1037delC	NP_005350.1:p.Pro346LeufsTer38
Ensemble	ENST00000342988.8:c.1037delC	ENST00000342988.8:p.Pro346LeufsTer38
	ENST00000398417.6:c.1037delC	ENST00000398417.6:p.Pro346LeufsTer38
	ENST00000588745.5:c.749delC	ENST00000588745.5:p.Pro250LeufsTer38
	ENST00000588860.6:c.1037delC	ENST00000588860.6:p.Pro346LeufsTer38
	ENST00000589076.6:c.1037delC	ENST00000589076.6:p.Pro346LeufsTer38
	ENST00000589941.2:c.1037delC	ENST00000589941.2:p.Pro346LeufsTer38
	ENST00000590061.2:c.1037delC	ENST00000590061.2:p.Pro346LeufsTer38
	ENST00000593223.2:c.1037delC	ENST00000593223.2:p.Pro346LeufsTer38
	ENST00000714261.1:c.1076delC	ENST00000714261.1:p.Pro359LeufsTer38
	ENST00000714264.1:c.1118delC	ENST00000714264.1:p.Pro373LeufsTer38
	ENST00000714266.1:c.824delC	ENST00000714266.1:p.Pro275LeufsTer38
	ENST00000714268.1:c.1007delC	ENST00000714268.1:p.Pro336LeufsTer38
	ENST00000714269.1:c.1002+35delC
	ENST00000714270.1:c.1115delC	ENST00000714270.1:p.Pro372LeufsTer38
	ENST00000714272.1:c.1013delC	ENST00000714272.1:p.Pro338LeufsTer38

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	2016-11-01	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.1037del (p.Pro346fs) 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: rs377767343 dbSNP
Genome: hg38
Position: chr18:51,065,504-51,065,504
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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