chr18:48575108:G>A Detail (hg19) (SMAD4)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr18:48,575,108-48,575,108
hg38	chr18:51,048,738-51,048,738 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.302G>A	NP_005350.1:p.Trp101Ter
Ensemble	ENST00000342988.8:c.302G>A	ENST00000342988.8:p.Trp101Ter
	ENST00000588860.6:c.302G>A	ENST00000588860.6:p.Trp101Ter
	ENST00000589941.2:c.302G>A	ENST00000589941.2:p.Trp101Ter
	ENST00000588745.5:c.302G>A	ENST00000588745.5:p.Trp101Ter
	ENST00000590061.2:c.302G>A	ENST00000590061.2:p.Trp101Ter
	ENST00000398417.6:c.302G>A	ENST00000398417.6:p.Trp101Ter
	ENST00000714269.1:c.302G>A	ENST00000714269.1:p.Trp101Ter
	ENST00000589076.6:c.302G>A	ENST00000589076.6:p.Trp101Ter
	ENST00000593223.2:c.302G>A	ENST00000593223.2:p.Trp101Ter
	ENST00000714261.1:c.302G>A	ENST00000714261.1:p.Trp101Ter
	ENST00000714264.1:c.302G>A	ENST00000714264.1:p.Trp101Ter
	ENST00000714266.1:c.302G>A	ENST00000714266.1:p.Trp101Ter
	ENST00000714268.1:c.302G>A	ENST00000714268.1:p.Trp101Ter
	ENST00000714270.1:c.302G>A	ENST00000714270.1:p.Trp101Ter
	ENST00000714272.1:c.302G>A	ENST00000714272.1:p.Trp101Ter

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		head of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	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: rs377767323 dbSNP
Genome: hg19
Position: chr18:48,575,108-48,575,108
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser