RGD:405146994 Rat Genome Database

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Variant: RGD:405146994 -  Homo sapiens

RGD ID: 405146994
ClinVar ID: CV2926179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 112,179,155
GRCh38 5 112,843,458
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_130t1:c.7864C>T
LRG_130t2:c.7864C>T
LRG_130t3:c.7864C>T
NM_001407471.1:c.6712C>T
More... 		06/04/2023 missense variant uncertain significance APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; POLYPOSIS, ADENOMATOUS INTESTINAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003538114 CLINVAR
MedGen C2713442 CLINVAR
NCBI Gene APC CLINVAR
OMIM 175100 CLINVAR
  611731 CLINVAR