chr18:48593480:AG> 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	chr18:48,593,480-48,593,481
hg38	chr18:51,067,110-51,067,111

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1231_1232delAG	NP_005350.1:p.Ser411LeufsTer17
Ensemble	ENST00000588745.5:c.943_944delAG	ENST00000588745.5:p.Ser315LeufsTer17
	ENST00000593223.2:c.1231_1232delAG	ENST00000593223.2:p.Ser411LeufsTer17
	ENST00000342988.8:c.1231_1232delAG	ENST00000342988.8:p.Ser411LeufsTer17
	ENST00000714272.1:c.1207_1208delAG	ENST00000714272.1:p.Ser403LeufsTer17
	ENST00000589076.6:c.1231_1232delAG	ENST00000589076.6:p.Ser411LeufsTer17
	ENST00000714264.1:c.1312_1313delAG	ENST00000714264.1:p.Ser438LeufsTer17
	ENST00000714266.1:c.1018_1019delAG	ENST00000714266.1:p.Ser340LeufsTer17
	ENST00000714268.1:c.1201_1202delAG	ENST00000714268.1:p.Ser401LeufsTer17
	ENST00000589941.2:c.1231_1232delAG	ENST00000589941.2:p.Ser411LeufsTer17
	ENST00000714269.1:c.1003_1004delAG	ENST00000714269.1:p.Ser335LeufsTer17
	ENST00000590061.2:c.1231_1232delAG	ENST00000590061.2:p.Ser411LeufsTer17
	ENST00000398417.6:c.1231_1232delAG	ENST00000398417.6:p.Ser411LeufsTer17
	ENST00000588860.6:c.1231_1232delAG	ENST00000588860.6:p.Ser411LeufsTer17
	ENST00000714261.1:c.1270_1271delAG	ENST00000714261.1:p.Ser424LeufsTer17
	ENST00000714270.1:c.1309_1310delAG	ENST00000714270.1:p.Ser437LeufsTer17

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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		caecum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	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: rs730881952 dbSNP
Genome: hg19
Position: chr18:48,593,480-48,593,481
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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