chr18:51078285:G>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	chr18:48,604,655-48,604,655 View the variant detail on this assembly version.
hg38	chr18:51,078,285-51,078,285

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1477G>C	NP_005350.1:p.Asp493His
Ensemble	ENST00000342988.8:c.1477G>C	ENST00000342988.8:p.Asp493His
	ENST00000398417.6:c.1477G>C	ENST00000398417.6:p.Asp493His
	ENST00000588745.5:c.1189G>C	ENST00000588745.5:p.Asp397His
	ENST00000588860.6:c.1477G>C	ENST00000588860.6:p.Asp493His
	ENST00000589076.6:c.1477G>C	ENST00000589076.6:p.Asp493His
	ENST00000589941.2:c.1477G>C	ENST00000589941.2:p.Asp493His
	ENST00000590061.2:c.1477G>C	ENST00000590061.2:p.Asp493His
	ENST00000593223.2:c.*1474G>C
	ENST00000714261.1:c.1516G>C	ENST00000714261.1:p.Asp506His
	ENST00000714264.1:c.1558G>C	ENST00000714264.1:p.Asp520His
	ENST00000714266.1:c.1264G>C	ENST00000714266.1:p.Asp422His
	ENST00000714268.1:c.1447G>C	ENST00000714268.1:p.Asp483His
	ENST00000714269.1:c.1249G>C	ENST00000714269.1:p.Asp417His
	ENST00000714270.1:c.1555G>C	ENST00000714270.1:p.Asp519His
	ENST00000714272.1:c.1453G>C	ENST00000714272.1:p.Asp485His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM87477	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1996-06-01	no assertion criteria provided	Carcinoma of pancreas	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.140	pancreatic carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) AND Carcinoma of pancreas	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: rs121912578 dbSNP
Genome: hg38
Position: chr18:51,078,285-51,078,285
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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