chr18:48593485:C>G 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	chr18:48,593,485-48,593,485
hg38	chr18:51,067,115-51,067,115 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1236C>G	NP_005350.1:p.Tyr412Ter
Ensemble	ENST00000593223.2:c.1236C>G	ENST00000593223.2:p.Tyr412Ter
	ENST00000342988.8:c.1236C>G	ENST00000342988.8:p.Tyr412Ter
	ENST00000588745.5:c.948C>G	ENST00000588745.5:p.Tyr316Ter
	ENST00000714272.1:c.1212C>G	ENST00000714272.1:p.Tyr404Ter
	ENST00000398417.6:c.1236C>G	ENST00000398417.6:p.Tyr412Ter
	ENST00000588860.6:c.1236C>G	ENST00000588860.6:p.Tyr412Ter
	ENST00000589076.6:c.1236C>G	ENST00000589076.6:p.Tyr412Ter
	ENST00000589941.2:c.1236C>G	ENST00000589941.2:p.Tyr412Ter
	ENST00000590061.2:c.1236C>G	ENST00000590061.2:p.Tyr412Ter
	ENST00000714261.1:c.1275C>G	ENST00000714261.1:p.Tyr425Ter
	ENST00000714264.1:c.1317C>G	ENST00000714264.1:p.Tyr439Ter
	ENST00000714266.1:c.1023C>G	ENST00000714266.1:p.Tyr341Ter
	ENST00000714268.1:c.1206C>G	ENST00000714268.1:p.Tyr402Ter
	ENST00000714269.1:c.1008C>G	ENST00000714269.1:p.Tyr336Ter
	ENST00000714270.1:c.1314C>G	ENST00000714270.1:p.Tyr438Ter

Summary

MGeND

Clinical significance	not provided
Variant entry	1
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	COSM14175	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		tail of pancreas	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1996-06-01	no assertion criteria provided	Carcinoma of pancreas	somatic	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) AND Carcinoma of pancreas	ClinVar	Detail
NA	DisGeNET	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: rs121912577 dbSNP
Genome: hg19
Position: chr18:48,593,485-48,593,485
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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