RGD:152083501 Rat Genome Database

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Variant: RGD:152083501 -  Homo sapiens

RGD ID: 152083501
RS ID: rs2144417628
ClinVar ID: CV1554726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 48,581,136
GRCh38 18 51,054,766
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_318:g.91727T>C
NG_013013.2:g.91727T>C
NC_000018.10:g.51054766T>C
NM_005359.6:c.455-15T>C
More...
05/25/2021 intron variant likely benign Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_005359
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407042
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407041
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002211729 CLINVAR
dbSNP (RS) rs2144417628 CLINVAR
MedGen C0345893 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 174900 CLINVAR
  600993 CLINVAR
SNOMED CT 9273005 CLINVAR