RGD:8592253 Rat Genome Database

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Variant: RGD:8592253 -  Homo sapiens

RGD ID: 8592253
RS ID: rs35032294
ClinVar ID: CV95062
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 37,034,770
GRCh38 3 36,993,279
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.-269C>G
LRG_216:g.4930C>G
NG_007109.2:g.4930C>G
NC_000003.12:g.36993279C>G
More... 		05/28/2019 2kb upstream variant|5 prime utr variant|upstream transcript variant benign|likely benign Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
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 RCV000075057 CLINVAR
  RCV000162413 CLINVAR
  RCV000987142 CLINVAR
  RCV001518391 CLINVAR
  RCV002292467 CLINVAR
dbSNP (RS) rs35032294 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C1333991 CLINVAR
  C3661900 CLINVAR
  C4552100 CLINVAR
NCBI Gene EPM2AIP1 CLINVAR
  MLH1 CLINVAR
OMIM 120436 CLINVAR
  607911 CLINVAR
  609310 CLINVAR
SNOMED CT 699346009 CLINVAR