chr18:48603060:CACA> 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	chr18:48,603,060-48,603,063
hg38	chr18:51,076,690-51,076,693

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1361_1364delCACA	NP_005350.1:p.Ala454GlufsTer21
Ensemble	ENST00000342988.8:c.1361_1364delCACA	ENST00000342988.8:p.Ala454GlufsTer21
	ENST00000398417.6:c.1361_1364delCACA	ENST00000398417.6:p.Ala454GlufsTer21
	ENST00000588745.5:c.1073_1076delCACA	ENST00000588745.5:p.Ala358GlufsTer21
	ENST00000588860.6:c.1361_1364delCACA	ENST00000588860.6:p.Ala454GlufsTer21
	ENST00000589076.6:c.1361_1364delCACA	ENST00000589076.6:p.Ala454GlufsTer21
	ENST00000589941.2:c.1361_1364delCACA	ENST00000589941.2:p.Ala454GlufsTer21
	ENST00000590061.2:c.1361_1364delCACA	ENST00000590061.2:p.Ala454GlufsTer21
	ENST00000593223.2:c.1361_1364delCACA	ENST00000593223.2:p.Ala454GlufsTer21
	ENST00000714261.1:c.1400_1403delCACA	ENST00000714261.1:p.Ala467GlufsTer21
	ENST00000714264.1:c.1442_1445delCACA	ENST00000714264.1:p.Ala481GlufsTer21
	ENST00000714266.1:c.1148_1151delCACA	ENST00000714266.1:p.Ala383GlufsTer21
	ENST00000714268.1:c.1331_1334delCACA	ENST00000714268.1:p.Ala444GlufsTer21
	ENST00000714269.1:c.1133_1136delCACA	ENST00000714269.1:p.Ala378GlufsTer21
	ENST00000714270.1:c.1439_1442delCACA	ENST00000714270.1:p.Ala480GlufsTer21
	ENST00000714272.1:c.1337_1340delCACA	ENST00000714272.1:p.Ala446GlufsTer21

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	2019-02-22	criteria provided, single submitter	Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-02-22	criteria provided, single submitter	Familial thoracic aortic aneurysm and aortic dissection,Hereditary cancer-predisposing 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.1361_1364del (p.Ala454fs) AND multiple conditions	ClinVar	Detail
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) AND multiple conditions	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: rs377767363 dbSNP
Genome: hg19
Position: chr18:48,603,060-48,603,063
Variant Type: snv
Reference Allele: CACA
Alternative Allele: -

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