chr18:48593442: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	chr18:48,593,442-48,593,442
hg38	chr18:51,067,072-51,067,072 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1193G>A	NP_005350.1:p.Trp398Ter
Ensemble	ENST00000588745.5:c.905G>A	ENST00000588745.5:p.Trp302Ter
	ENST00000593223.2:c.1193G>A	ENST00000593223.2:p.Trp398Ter
	ENST00000342988.8:c.1193G>A	ENST00000342988.8:p.Trp398Ter
	ENST00000398417.6:c.1193G>A	ENST00000398417.6:p.Trp398Ter
	ENST00000588860.6:c.1193G>A	ENST00000588860.6:p.Trp398Ter
	ENST00000589076.6:c.1193G>A	ENST00000589076.6:p.Trp398Ter
	ENST00000589941.2:c.1193G>A	ENST00000589941.2:p.Trp398Ter
	ENST00000590061.2:c.1193G>A	ENST00000590061.2:p.Trp398Ter
	ENST00000714261.1:c.1232G>A	ENST00000714261.1:p.Trp411Ter
	ENST00000714264.1:c.1274G>A	ENST00000714264.1:p.Trp425Ter
	ENST00000714266.1:c.980G>A	ENST00000714266.1:p.Trp327Ter
	ENST00000714268.1:c.1163G>A	ENST00000714268.1:p.Trp388Ter
	ENST00000714269.1:c.1003-38G>A
	ENST00000714270.1:c.1271G>A	ENST00000714270.1:p.Trp424Ter
	ENST00000714272.1:c.1169G>A	ENST00000714272.1:p.Trp390Ter

Summary

MGeND

Clinical significance	not provided
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	COSM5742575	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
not provided		malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		body of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ill-defined sites within the digestive system	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-07-31	criteria provided, single submitter	juvenile polyposis syndrome	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.1193G>A (p.Trp398Ter) AND Juvenile polyposis syndrome	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: rs377767357 dbSNP
Genome: hg19
Position: chr18:48,593,442-48,593,442
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser