chr18:51065606:G>A 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	chr18:48,591,976-48,591,976 View the variant detail on this assembly version.
hg38	chr18:51,065,606-51,065,606

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1139G>A	NP_005350.1:p.Arg380Lys
Ensemble	ENST00000342988.8:c.1139G>A	ENST00000342988.8:p.Arg380Lys
	ENST00000398417.6:c.1139G>A	ENST00000398417.6:p.Arg380Lys
	ENST00000588745.5:c.851G>A	ENST00000588745.5:p.Arg284Lys
	ENST00000588860.6:c.1139G>A	ENST00000588860.6:p.Arg380Lys
	ENST00000589076.6:c.1139G>A	ENST00000589076.6:p.Arg380Lys
	ENST00000589941.2:c.1139G>A	ENST00000589941.2:p.Arg380Lys
	ENST00000590061.2:c.1139G>A	ENST00000590061.2:p.Arg380Lys
	ENST00000593223.2:c.1139G>A	ENST00000593223.2:p.Arg380Lys
	ENST00000714261.1:c.1178G>A	ENST00000714261.1:p.Arg393Lys
	ENST00000714264.1:c.1220G>A	ENST00000714264.1:p.Arg407Lys
	ENST00000714266.1:c.926G>A	ENST00000714266.1:p.Arg309Lys
	ENST00000714268.1:c.1109G>A	ENST00000714268.1:p.Arg370Lys
	ENST00000714269.1:c.1002+137G>A
	ENST00000714270.1:c.1217G>A	ENST00000714270.1:p.Arg406Lys
	ENST00000714272.1:c.1115G>A	ENST00000714272.1:p.Arg372Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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	COSM1226732	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2019-07-05	criteria provided, single submitter	juvenile polyposis syndrome	germline	Detail
Pathogenic	2019-03-01	criteria provided, single submitter	Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-03-01	criteria provided, single submitter	Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2024-02-09	criteria provided, single submitter	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	unknown	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.1139G>A (p.Arg380Lys) AND Juvenile polyposis syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) AND Juvenile polyposis/hereditary hemorrhagic telangiecta...	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: rs377767353 dbSNP
Genome: hg38
Position: chr18:51,065,606-51,065,606
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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