chr18:48591977:G>A 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	chr18:48,591,977-48,591,977
hg38	chr18:51,065,607-51,065,607 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1139+1G>A
Ensemble	ENST00000342988.8:c.1139+1G>A
	ENST00000398417.6:c.1139+1G>A
	ENST00000588745.5:c.851+1G>A
	ENST00000588860.6:c.1139+1G>A
	ENST00000589076.6:c.1139+1G>A
	ENST00000589941.2:c.1139+1G>A
	ENST00000590061.2:c.1139+1G>A
	ENST00000593223.2:c.1139+1G>A
	ENST00000714261.1:c.1178+1G>A
	ENST00000714264.1:c.1220+1G>A
	ENST00000714266.1:c.926+1G>A
	ENST00000714268.1:c.1109+1G>A
	ENST00000714269.1:c.1002+138G>A
	ENST00000714270.1:c.1217+1G>A
	ENST00000714272.1:c.1115+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2021-09-07	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.1139+1G>A AND Juvenile polyposis syndrome	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs377767354 dbSNP
Genome: hg19
Position: chr18:48,591,977-48,591,977
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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