RGD:13468916 Rat Genome Database

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Variant: RGD:13468916 -  Homo sapiens

RGD ID: 13468916
RS ID: rs552880257
ClinVar ID: CV480158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 48,584,524
GRCh38 18 51,058,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005359.5:c.697C>A
NP_005350.1:p.His233Asn
NM_005359.6:c.697C>A
NP_005350.1:p.His233Asn
More...
08/15/2016 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cancer-predisposing syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; Thoracic aortic aneurysms and dissections; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_005359
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSNSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:SMAD4
Accession:NM_001407042
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSNSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:SMAD4
Accession:NM_001407041
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSNSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:SMAD4
Accession:NM_001407043
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSNSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARY*

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001853818 CLINVAR
  RCV002317326 CLINVAR
  RCV003584664 CLINVAR
dbSNP (RS) rs552880257 CLINVAR
MedGen C0027672 CLINVAR
  C0345893 CLINVAR
  C4707243 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 174900 CLINVAR
  600993 CLINVAR
SNOMED CT 699346009 CLINVAR
  9273005 CLINVAR