SMAD4 p.Asp355Tyr (p.D355Y) 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	chr18:48,591,900-48,591,900
hg38	chr18:51,065,530-51,065,530

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1063G>T	NP_005350.1:p.Asp355Tyr
Ensemble	ENST00000398417.6:c.1063G>T	ENST00000398417.6:p.Asp355Tyr
	ENST00000342988.8:c.1063G>T	ENST00000342988.8:p.Asp355Tyr
	ENST00000588745.5:c.775G>T	ENST00000588745.5:p.Asp259Tyr
	ENST00000588860.6:c.1063G>T	ENST00000588860.6:p.Asp355Tyr
	ENST00000589076.6:c.1063G>T	ENST00000589076.6:p.Asp355Tyr
	ENST00000589941.2:c.1063G>T	ENST00000589941.2:p.Asp355Tyr
	ENST00000590061.2:c.1063G>T	ENST00000590061.2:p.Asp355Tyr
	ENST00000714261.1:c.1102G>T	ENST00000714261.1:p.Asp368Tyr
	ENST00000714270.1:c.1141G>T	ENST00000714270.1:p.Asp381Tyr
	ENST00000593223.2:c.1063G>T	ENST00000593223.2:p.Asp355Tyr
	ENST00000714266.1:c.850G>T	ENST00000714266.1:p.Asp284Tyr
	ENST00000714269.1:c.1002+61G>T
	ENST00000714264.1:c.1144G>T	ENST00000714264.1:p.Asp382Tyr
	ENST00000714272.1:c.1039G>T	ENST00000714272.1:p.Asp347Tyr
	ENST00000714268.1:c.1033G>T	ENST00000714268.1:p.Asp345Tyr

Summary

MGeND

Clinical significance	not provided
Variant entry	1
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	COSM4754642	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		body of stomach	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: -
Genome: hg19
Position: chr18:48,591,900-48,591,900
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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