RGD:8658840 Rat Genome Database

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Variant: RGD:8658840 -  Homo sapiens

RGD ID: 8658840
RS ID: rs200772603
ClinVar ID: CV133407
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 48,575,235
GRCh38 18 51,048,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_318t1:c.424+5G>A
LRG_318:g.85826G>A
NG_013013.2:g.85826G>A
NC_000018.10:g.51048865G>A
More... 		04/27/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance childhood 1-9 / 100 000|1:10,000|<1 / 1 000 000 AllHighlyPenetrant; Cancer predisposition; Growth mental deficiency syndrome of Myhre; Hereditary Cancer Syndrome; Hereditary cancer-predisposing syndrome; Hereditary neoplastic syndrome; JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; LAPS SYNDROME; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE; Neoplastic Syndromes, Hereditary; none provided; 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

Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_001407041
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407042
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_005359
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407043
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25186627   PMID:25741868   PMID:25980754   PMID:26467025   PMID:27146957   PMID:28492532   PMID:28726808   PMID:28873162   PMID:30426508   PMID:31159747   PMID:32066632  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115883 CLINVAR
  RCV000204731 CLINVAR
  RCV000213004 CLINVAR
  RCV000306889 CLINVAR
  RCV000346296 CLINVAR
  RCV000656977 CLINVAR
  RCV000770696 CLINVAR
  RCV002228348 CLINVAR
  RCV002311002 CLINVAR
dbSNP (RS) rs200772603 CLINVAR
MedGen C0027672 CLINVAR
  C0345893 CLINVAR
  C0796081 CLINVAR
  C1832942 CLINVAR
  C1868081 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 139210 CLINVAR
  174900 CLINVAR
  175050 CLINVAR
  600993 CLINVAR
SNOMED CT 699346009 CLINVAR
  9273005 CLINVAR