chr18:48591919:G>T 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	chr18:48,591,919-48,591,919
hg38	chr18:51,065,549-51,065,549 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1082G>T	NP_005350.1:p.Arg361Leu
Ensemble	ENST00000342988.8:c.1082G>T	ENST00000342988.8:p.Arg361Leu
	ENST00000398417.6:c.1082G>T	ENST00000398417.6:p.Arg361Leu
	ENST00000588745.5:c.794G>T	ENST00000588745.5:p.Arg265Leu
	ENST00000588860.6:c.1082G>T	ENST00000588860.6:p.Arg361Leu
	ENST00000589076.6:c.1082G>T	ENST00000589076.6:p.Arg361Leu
	ENST00000589941.2:c.1082G>T	ENST00000589941.2:p.Arg361Leu
	ENST00000590061.2:c.1082G>T	ENST00000590061.2:p.Arg361Leu
	ENST00000593223.2:c.1082G>T	ENST00000593223.2:p.Arg361Leu
	ENST00000714261.1:c.1121G>T	ENST00000714261.1:p.Arg374Leu
	ENST00000714264.1:c.1163G>T	ENST00000714264.1:p.Arg388Leu
	ENST00000714266.1:c.869G>T	ENST00000714266.1:p.Arg290Leu
	ENST00000714268.1:c.1052G>T	ENST00000714268.1:p.Arg351Leu
	ENST00000714269.1:c.1002+80G>T
	ENST00000714270.1:c.1160G>T	ENST00000714270.1:p.Arg387Leu
	ENST00000714272.1:c.1058G>T	ENST00000714272.1:p.Arg353Leu

Summary

MGeND

Clinical significance	not provided
Variant entry	2
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	COSM6937457	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		malignant neoplasm of rectum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

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: rs377767347 dbSNP
Genome: hg19
Position: chr18:48,591,919-48,591,919
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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