chr18:51065437:T>C Detail (hg38) (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	chr18:48,591,807-48,591,807 View the variant detail on this assembly version.
hg38	chr18:51,065,437-51,065,437

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.970T>C	NP_005350.1:p.Cys324Arg
Ensemble	ENST00000714266.1:c.757T>C	ENST00000714266.1:p.Cys253Arg
	ENST00000714268.1:c.940T>C	ENST00000714268.1:p.Cys314Arg
	ENST00000714269.1:c.970T>C	ENST00000714269.1:p.Cys324Arg
	ENST00000714270.1:c.1048T>C	ENST00000714270.1:p.Cys350Arg
	ENST00000714272.1:c.946T>C	ENST00000714272.1:p.Cys316Arg
	ENST00000342988.8:c.970T>C	ENST00000342988.8:p.Cys324Arg
	ENST00000398417.6:c.970T>C	ENST00000398417.6:p.Cys324Arg
	ENST00000588745.5:c.682T>C	ENST00000588745.5:p.Cys228Arg
	ENST00000588860.6:c.970T>C	ENST00000588860.6:p.Cys324Arg
	ENST00000589076.6:c.970T>C	ENST00000589076.6:p.Cys324Arg
	ENST00000589941.2:c.970T>C	ENST00000589941.2:p.Cys324Arg
	ENST00000590061.2:c.970T>C	ENST00000590061.2:p.Cys324Arg
	ENST00000593223.2:c.970T>C	ENST00000593223.2:p.Cys324Arg
	ENST00000714261.1:c.1009T>C	ENST00000714261.1:p.Cys337Arg
	ENST00000714264.1:c.1051T>C	ENST00000714264.1:p.Cys351Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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	COSM6955366	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2015-12-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	juvenile polyposis syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.970T>C (p.Cys324Arg) AND not provided	ClinVar	Detail
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: rs377767339 dbSNP
Genome: hg38
Position: chr18:51,065,437-51,065,437
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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