chr18:51065509:GT> 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	chr18:48,591,879-48,591,880
hg38	chr18:51,065,509-51,065,510

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1042_1043delGT	NP_005350.1:p.Val348TyrfsTer3
Ensemble	ENST00000342988.8:c.1042_1043delGT	ENST00000342988.8:p.Val348TyrfsTer3
	ENST00000398417.6:c.1042_1043delGT	ENST00000398417.6:p.Val348TyrfsTer3
	ENST00000588745.5:c.754_755delGT	ENST00000588745.5:p.Val252TyrfsTer3
	ENST00000588860.6:c.1042_1043delGT	ENST00000588860.6:p.Val348TyrfsTer3
	ENST00000589076.6:c.1042_1043delGT	ENST00000589076.6:p.Val348TyrfsTer3
	ENST00000589941.2:c.1042_1043delGT	ENST00000589941.2:p.Val348TyrfsTer3
	ENST00000590061.2:c.1042_1043delGT	ENST00000590061.2:p.Val348TyrfsTer3
	ENST00000593223.2:c.1042_1043delGT	ENST00000593223.2:p.Val348TyrfsTer3
	ENST00000714261.1:c.1081_1082delGT	ENST00000714261.1:p.Val361TyrfsTer3
	ENST00000714264.1:c.1123_1124delGT	ENST00000714264.1:p.Val375TyrfsTer3
	ENST00000714266.1:c.829_830delGT	ENST00000714266.1:p.Val277TyrfsTer3
	ENST00000714268.1:c.1012_1013delGT	ENST00000714268.1:p.Val338TyrfsTer3
	ENST00000714269.1:c.1002+40_1002+41delGT
	ENST00000714270.1:c.1120_1121delGT	ENST00000714270.1:p.Val374TyrfsTer3
	ENST00000714272.1:c.1018_1019delGT	ENST00000714272.1:p.Val340TyrfsTer3

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	1998-05-15	no assertion criteria provided	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.1042_1043del (p.Val348fs) 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: rs377767344 dbSNP
Genome: hg38
Position: chr18:51,065,509-51,065,510
Variant Type: snv
Reference Allele: GT
Alternative Allele: -

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