RGD:14717094 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14717094 -  Homo sapiens

RGD ID: 14717094
RS ID: rs956500063
ClinVar ID: CV651408
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 112,043,152
GRCh38 5 112,707,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NM_000038.5:c.-30489A>C
NG_173817.1:g.78A>C
NC_000005.9:g.112043152A>C
NG_008481.4:g.19935A>C
More...
10/28/2021 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 RCV003535962 CLINVAR
dbSNP (RS) rs956500063 CLINVAR
MedGen C2713442 CLINVAR
NCBI Gene APC CLINVAR
OMIM 175100 CLINVAR
  611731 CLINVAR