RGD:405149506 Rat Genome Database

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Variant: RGD:405149506 -  Homo sapiens

RGD ID: 405149506
ClinVar ID: CV2930429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 112,176,494
GRCh38 5 112,840,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001407459.1:c.4900G>C
NM_001407460.1:c.4900G>C
NM_001354902.2:c.4930G>C
NM_001407454.1:c.4954G>C
More... 		06/05/2023 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 RCV003538349 CLINVAR
MedGen C2713442 CLINVAR
NCBI Gene APC CLINVAR
OMIM 175100 CLINVAR
  611731 CLINVAR