chr18:48604778:C>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	chr18:48,604,778-48,604,778
hg38	chr18:51,078,408-51,078,408 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1600C>T	NP_005350.1:p.Gln534Ter
Ensemble	ENST00000398417.6:c.1600C>T	ENST00000398417.6:p.Gln534Ter
	ENST00000588745.5:c.1312C>T	ENST00000588745.5:p.Gln438Ter
	ENST00000342988.8:c.1600C>T	ENST00000342988.8:p.Gln534Ter
	ENST00000714270.1:c.1678C>T	ENST00000714270.1:p.Gln560Ter
	ENST00000714272.1:c.1576C>T	ENST00000714272.1:p.Gln526Ter
	ENST00000588860.6:c.1600C>T	ENST00000588860.6:p.Gln534Ter
	ENST00000589076.6:c.1600C>T	ENST00000589076.6:p.Gln534Ter
	ENST00000589941.2:c.1600C>T	ENST00000589941.2:p.Gln534Ter
	ENST00000590061.2:c.1600C>T	ENST00000590061.2:p.Gln534Ter
	ENST00000593223.2:c.*1597C>T
	ENST00000714261.1:c.1639C>T	ENST00000714261.1:p.Gln547Ter
	ENST00000714264.1:c.1681C>T	ENST00000714264.1:p.Gln561Ter
	ENST00000714266.1:c.1387C>T	ENST00000714266.1:p.Gln463Ter
	ENST00000714268.1:c.1570C>T	ENST00000714268.1:p.Gln524Ter
	ENST00000714269.1:c.1372C>T	ENST00000714269.1:p.Gln458Ter

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	5
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	COSM4754647	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Carcinoma of endocrine pancreas (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University
not provided		jejunum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		ampulla of vater	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-30	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.1600C>T (p.Gln534Ter) 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: rs377767383 dbSNP
Genome: hg19
Position: chr18:48,604,778-48,604,778
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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