chr18:48604774:CC>T 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	chr18:48,604,774-48,604,775
hg38	chr18:51,078,404-51,078,405 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1596_1597delinsT	NP_005350.1:p.Leu533SerfsTer4
Ensemble	ENST00000342988.8:c.1596_1597delinsT	ENST00000342988.8:p.Leu533SerfsTer4
	ENST00000398417.6:c.1596_1597delinsT	ENST00000398417.6:p.Leu533SerfsTer4
	ENST00000588745.5:c.1308_1309delinsT	ENST00000588745.5:p.Leu437SerfsTer4
	ENST00000588860.6:c.1596_1597delinsT	ENST00000588860.6:p.Leu533SerfsTer4
	ENST00000589076.6:c.1596_1597delinsT	ENST00000589076.6:p.Leu533SerfsTer4
	ENST00000589941.2:c.1596_1597delinsT	ENST00000589941.2:p.Leu533SerfsTer4
	ENST00000590061.2:c.1596_1597delinsT	ENST00000590061.2:p.Leu533SerfsTer4
	ENST00000593223.2:c.1593_1594delinsT
	ENST00000714261.1:c.1635_1636delinsT	ENST00000714261.1:p.Leu546SerfsTer4
	ENST00000714264.1:c.1677_1678delinsT	ENST00000714264.1:p.Leu560SerfsTer4
	ENST00000714266.1:c.1383_1384delinsT	ENST00000714266.1:p.Leu462SerfsTer4
	ENST00000714268.1:c.1566_1567delinsT	ENST00000714268.1:p.Leu523SerfsTer4
	ENST00000714269.1:c.1368_1369delinsT	ENST00000714269.1:p.Leu457SerfsTer4
	ENST00000714270.1:c.1674_1675delinsT	ENST00000714270.1:p.Leu559SerfsTer4
	ENST00000714272.1:c.1572_1573delinsT	ENST00000714272.1:p.Leu525SerfsTer4

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-10-01	no assertion criteria provided	Juvenile polyposis/hereditary hemorrhagic telangiectasia 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.1596_1597delinsT (p.Leu533fs) AND Juvenile polyposis/hereditary hemorrhagic tel...	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: rs377767379 dbSNP
Genome: hg19
Position: chr18:48,604,774-48,604,775
Variant Type: snv
Reference Allele: CC
Alternative Allele: T

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