RGD:12899649 Rat Genome Database

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Variant: RGD:12899649 -  Homo sapiens

RGD ID: 12899649
RS ID: rs1023427434
ClinVar ID: CV410373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127889333  SMAD4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 48,556,999
GRCh38 18 51,030,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_318t1:c.-128+6C>T
LRG_318:g.67590C>T
NG_013013.2:g.67590C>T
NC_000018.10:g.51030629C>T
More... 		08/07/2021 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_001407043
Location:5UTRS;INTRON

Gene Symbol:SMAD4
Accession:NM_001407041
Location:5UTRS;INTRON

Gene Symbol:SMAD4
Accession:NM_001407042
Location:5UTRS;INTRON

Gene Symbol:SMAD4
Accession:NM_005359
Location:5UTRS;INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000480676 CLINVAR
  RCV002257764 CLINVAR
dbSNP (RS) rs1023427434 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 600993 CLINVAR
SNOMED CT 699346009 CLINVAR