RGD:11648079 Rat Genome Database

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Variant: RGD:11648079 -  Homo sapiens

RGD ID: 11648079
RS ID: rs886053914
ClinVar ID: CV331656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 48,608,475
GRCh38 18 51,082,105
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.*3638T>G
LRG_318:g.119066T>G
NG_013013.2:g.119066T>G
NC_000018.10:g.51082105T>G
More... 		01/12/2018 3 prime utr variant uncertain significance childhood 1:10,000|<1 / 1 000 000 Growth mental deficiency syndrome of Myhre; JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; LAPS SYNDROME; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI

Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_001407041
Location:3UTRS;EXON

Gene Symbol:SMAD4
Accession:NM_001407042
Location:3UTRS;EXON

Gene Symbol:SMAD4
Accession:NM_005359
Location:3UTRS;EXON

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

Gene Symbol:SMAD4
Accession:NM_001407043
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280172 CLINVAR
  RCV000335213 CLINVAR
  RCV000375766 CLINVAR
dbSNP (RS) rs886053914 CLINVAR
MedGen C0796081 CLINVAR
  C1832942 CLINVAR
  C1868081 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 139210 CLINVAR
  175050 CLINVAR
  600993 CLINVAR