chr18:48604776:T>C 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	chr18:48,604,776-48,604,776
hg38	chr18:51,078,406-51,078,406 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1598T>C	NP_005350.1:p.Leu533Pro
Ensemble	ENST00000593223.2:c.*1595T>C
	ENST00000714272.1:c.1574T>C	ENST00000714272.1:p.Leu525Pro
	ENST00000714266.1:c.1385T>C	ENST00000714266.1:p.Leu462Pro
	ENST00000714264.1:c.1679T>C	ENST00000714264.1:p.Leu560Pro
	ENST00000714261.1:c.1637T>C	ENST00000714261.1:p.Leu546Pro
	ENST00000590061.2:c.1598T>C	ENST00000590061.2:p.Leu533Pro
	ENST00000589941.2:c.1598T>C	ENST00000589941.2:p.Leu533Pro
	ENST00000589076.6:c.1598T>C	ENST00000589076.6:p.Leu533Pro
	ENST00000588860.6:c.1598T>C	ENST00000588860.6:p.Leu533Pro
	ENST00000588745.5:c.1310T>C	ENST00000588745.5:p.Leu437Pro
	ENST00000398417.6:c.1598T>C	ENST00000398417.6:p.Leu533Pro
	ENST00000342988.8:c.1598T>C	ENST00000342988.8:p.Leu533Pro
	ENST00000714268.1:c.1568T>C	ENST00000714268.1:p.Leu523Pro
	ENST00000714269.1:c.1370T>C	ENST00000714269.1:p.Leu457Pro
	ENST00000714270.1:c.1676T>C	ENST00000714270.1:p.Leu559Pro

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM3378570	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		ascending colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-03-08	criteria provided, single submitter	juvenile polyposis syndrome	germline	Detail

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
NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) 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: rs377767382 dbSNP
Genome: hg19
Position: chr18:48,604,776-48,604,776
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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