chr18:48593517:G> 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	chr18:48,593,517-48,593,517
hg38	chr18:51,067,147-51,067,147

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1268delG	NP_005350.1:p.Gly423GlufsTer13
Ensemble	ENST00000342988.8:c.1268delG	ENST00000342988.8:p.Gly423GlufsTer13
	ENST00000398417.6:c.1268delG	ENST00000398417.6:p.Gly423GlufsTer13
	ENST00000588745.5:c.980delG	ENST00000588745.5:p.Gly327GlufsTer13
	ENST00000588860.6:c.1268delG	ENST00000588860.6:p.Gly423GlufsTer13
	ENST00000589076.6:c.1268delG	ENST00000589076.6:p.Gly423GlufsTer13
	ENST00000589941.2:c.1268delG	ENST00000589941.2:p.Gly423GlufsTer13
	ENST00000590061.2:c.1268delG	ENST00000590061.2:p.Gly423GlufsTer13
	ENST00000593223.2:c.1268delG	ENST00000593223.2:p.Gly423GlufsTer13
	ENST00000714261.1:c.1307delG	ENST00000714261.1:p.Gly436GlufsTer13
	ENST00000714264.1:c.1349delG	ENST00000714264.1:p.Gly450GlufsTer13
	ENST00000714266.1:c.1055delG	ENST00000714266.1:p.Gly352GlufsTer13
	ENST00000714268.1:c.1238delG	ENST00000714268.1:p.Gly413GlufsTer13
	ENST00000714269.1:c.1040delG	ENST00000714269.1:p.Gly347GlufsTer13
	ENST00000714270.1:c.1346delG	ENST00000714270.1:p.Gly449GlufsTer13
	ENST00000714272.1:c.1244delG	ENST00000714272.1:p.Gly415GlufsTer13

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
0.588	juvenile polyposis syndrome	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: rs377767359 dbSNP
Genome: hg19
Position: chr18:48,593,517-48,593,517
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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