RGD:34901333 Rat Genome Database

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Variant: RGD:34901333 -  Homo sapiens

RGD ID: 34901333
RS ID: rs1909617473
ClinVar ID: CV916618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 48,575,045
GRCh38 18 51,048,675
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_318t1:c.250-11T>C
NM_005359.6:c.250-11T>C
LRG_318:g.85636T>C
NG_013013.2:g.85636T>C
More... 		11/11/2018 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:SMAD4
Accession:NM_005359
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407042
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407043
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001191515 CLINVAR
dbSNP (RS) rs1909617473 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 600993 CLINVAR
SNOMED CT 699346009 CLINVAR