chr18:48603037:GA> Detail (hg19) (SMAD4)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr18:48,603,037-48,603,038
hg38	chr18:51,076,667-51,076,668

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1338_1339delGA	NP_005350.1:p.Gln446HisfsTer47
Ensemble	ENST00000342988.8:c.1338_1339delGA	ENST00000342988.8:p.Gln446HisfsTer47
	ENST00000398417.6:c.1338_1339delGA	ENST00000398417.6:p.Gln446HisfsTer47
	ENST00000588745.5:c.1050_1051delGA	ENST00000588745.5:p.Gln350HisfsTer47
	ENST00000588860.6:c.1338_1339delGA	ENST00000588860.6:p.Gln446HisfsTer47
	ENST00000589076.6:c.1338_1339delGA	ENST00000589076.6:p.Gln446HisfsTer47
	ENST00000589941.2:c.1338_1339delGA	ENST00000589941.2:p.Gln446HisfsTer47
	ENST00000590061.2:c.1338_1339delGA	ENST00000590061.2:p.Gln446HisfsTer47
	ENST00000593223.2:c.1338_1339delGA	ENST00000593223.2:p.Gln446HisfsTer38
	ENST00000714261.1:c.1377_1378delGA	ENST00000714261.1:p.Gln459HisfsTer47
	ENST00000714264.1:c.1419_1420delGA	ENST00000714264.1:p.Gln473HisfsTer47
	ENST00000714266.1:c.1125_1126delGA	ENST00000714266.1:p.Gln375HisfsTer47
	ENST00000714268.1:c.1308_1309delGA	ENST00000714268.1:p.Gln436HisfsTer47
	ENST00000714269.1:c.1110_1111delGA	ENST00000714269.1:p.Gln370HisfsTer47
	ENST00000714270.1:c.1416_1417delGA	ENST00000714270.1:p.Gln472HisfsTer47
	ENST00000714272.1:c.1314_1315delGA	ENST00000714272.1:p.Gln438HisfsTer47

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	2014-10-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) AND not provided	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: rs730881957 dbSNP
Genome: hg19
Position: chr18:48,603,037-48,603,038
Variant Type: snv
Reference Allele: GA
Alternative Allele: -

Genome browser