RGD:151709789 Rat Genome Database

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Variant: RGD:151709789 -  Homo sapiens

RGD ID: 151709789
RS ID: rs2144427543
ClinVar ID: CV1433335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 48,584,585
GRCh38 18 51,058,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005359.6:c.758T>A
LRG_318:g.95176T>A
NG_013013.2:g.95176T>A
NC_000018.10:g.51058215T>A
More... 		09/17/2023 missense variant uncertain significance JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_001407042
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGYTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:SMAD4
Accession:NM_001407043
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGYTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARY*

Gene Symbol:SMAD4
Accession:NM_001407041
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGYTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

Gene Symbol:SMAD4
Accession:NM_005359
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDG
RLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKD
EYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGYTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAP
EYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVR
CLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD*

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 RCV002001715 CLINVAR
  RCV004011080 CLINVAR
dbSNP (RS) rs2144427543 CLINVAR
MedGen C0345893 CLINVAR
  C1832942 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 174900 CLINVAR
  175050 CLINVAR
  600993 CLINVAR
SNOMED CT 9273005 CLINVAR