chr18:48603147:G>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	chr18:48,603,147-48,603,147
hg38	chr18:51,076,777-51,076,777 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1447+1G>A
Ensemble	ENST00000342988.8:c.1447+1G>A
	ENST00000398417.6:c.1447+1G>A
	ENST00000588745.5:c.1159+1G>A
	ENST00000588860.6:c.1447+1G>A
	ENST00000589076.6:c.1447+1G>A
	ENST00000589941.2:c.1447+1G>A
	ENST00000590061.2:c.1447+1G>A
	ENST00000593223.2:c.1448G>A	ENST00000593223.2:p.Ser483Asn
	ENST00000714261.1:c.1486+1G>A
	ENST00000714264.1:c.1528+1G>A
	ENST00000714266.1:c.1234+1G>A
	ENST00000714268.1:c.1417+1G>A
	ENST00000714269.1:c.1219+1G>A
	ENST00000714270.1:c.1525+1G>A
	ENST00000714272.1:c.1423+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs377767387 dbSNP
Genome: hg19
Position: chr18:48,603,147-48,603,147
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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