RGD:13539833 Rat Genome Database

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Variant: RGD:13539833 -  Homo sapiens

RGD ID: 13539833
RS ID: rs757567812
ClinVar ID: CV506335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 48,573,308
GRCh38 18 51,046,938
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_318t1:c.-109C>G
LRG_318:g.83899C>G
NG_013013.2:g.83899C>G
NC_000018.10:g.51046938C>G
More... 		10/25/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_005359
Location:5UTRS;EXON

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

Gene Symbol:SMAD4
Accession:NM_001407043
Location:5UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000613815 CLINVAR
dbSNP (RS) rs757567812 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 600993 CLINVAR