RGD:12884432 Rat Genome Database

Variant: RGD:12884432 - Homo sapiens

RGD ID:

12884432

RS ID:

rs1060504023

ClinVar ID:

CV403331

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SMAD4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	18	48,591,962
GRCh38	18	51,065,592

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Prevalence	Trait Synonyms
NM_005359.6:c.1125C>T NP_005350.1:p.Ala375= LRG_318t1:c.1125C>T LRG_318:g.102553C>T More...	11/08/2018	synonymous variant	likely benign	1-9 / 100 000	Cancer predisposition; Carcinoma of pancreas; Exocrine pancreatic carcinoma; Growth mental deficiency syndrome of Myhre; Hereditary Cancer Syndrome; Hereditary cancer-predisposing syndrome; Hereditary neoplastic syndrome; JP/HHT SYNDROME; Juvenile polyposis syndrome; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; LAPS SYNDROME; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE; Neoplastic Syndromes, Hereditary; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI; Thoracic aortic aneurysms and dissections; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Growth Mental Deficiency Syndrome of Myhre (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

juvenile polyposis syndrome (IAGP)

juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome (IAGP)

pancreatic carcinoma (IAGP)

thoracic aortic aneurysm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SMAD4
Accession:	NM_001407043
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	375

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARY*

Gene Symbol:	SMAD4
Accession:	NM_001407042
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	375

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:	SMAD4
Accession:	NM_005359
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	375

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:	SMAD4
Accession:	NM_001407041
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	375

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:	SMAD4
Accession:	NR_176264
Location:	EXON;NON-CODING

Gene Symbol:	SMAD4
Accession:	NR_176265
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000463436	CLINVAR
	RCV002318547	CLINVAR
	RCV002489099	CLINVAR
dbSNP (RS)	rs1060504023	CLINVAR
MedGen	C0345893	CLINVAR
	C0796081	CLINVAR
	C4707243	CLINVAR
NCBI Gene	SMAD4	CLINVAR
OMIM	139210	CLINVAR
	174900	CLINVAR
	175050	CLINVAR
	260350	CLINVAR
	600993	CLINVAR
SNOMED CT	372142002	CLINVAR
	699346009	CLINVAR
	9273005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:12884432 - Homo sapiens

Imported Disease Annotations - ClinVar