chr18:48603041: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	chr18:48,603,041-48,603,041
hg38	chr18:51,076,671-51,076,671 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1342C>T	NP_005350.1:p.Gln448Ter
Ensemble	ENST00000342988.8:c.1342C>T	ENST00000342988.8:p.Gln448Ter
	ENST00000588745.5:c.1054C>T	ENST00000588745.5:p.Gln352Ter
	ENST00000398417.6:c.1342C>T	ENST00000398417.6:p.Gln448Ter
	ENST00000593223.2:c.1342C>T	ENST00000593223.2:p.Gln448Ter
	ENST00000590061.2:c.1342C>T	ENST00000590061.2:p.Gln448Ter
	ENST00000714268.1:c.1312C>T	ENST00000714268.1:p.Gln438Ter
	ENST00000714264.1:c.1423C>T	ENST00000714264.1:p.Gln475Ter
	ENST00000714261.1:c.1381C>T	ENST00000714261.1:p.Gln461Ter
	ENST00000589941.2:c.1342C>T	ENST00000589941.2:p.Gln448Ter
	ENST00000589076.6:c.1342C>T	ENST00000589076.6:p.Gln448Ter
	ENST00000588860.6:c.1342C>T	ENST00000588860.6:p.Gln448Ter
	ENST00000714272.1:c.1318C>T	ENST00000714272.1:p.Gln440Ter
	ENST00000714270.1:c.1420C>T	ENST00000714270.1:p.Gln474Ter
	ENST00000714269.1:c.1114C>T	ENST00000714269.1:p.Gln372Ter
	ENST00000714266.1:c.1129C>T	ENST00000714266.1:p.Gln377Ter

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM5364542	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic		Carcinoma of pancreas (disorder)	unknown	MGS000021 (TMGS000080)	Manabu Muto	Kyoto University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.588	juvenile polyposis syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs377767361 dbSNP
Genome: hg19
Position: chr18:48,603,041-48,603,041
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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