RGD:15114161 Rat Genome Database

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Variant: RGD:15114161 -  Homo sapiens

RGD ID: 15114161
RS ID: rs34058399
ClinVar ID: CV710049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 80,024,783
GRCh38 5 80,728,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016607.2:g.79490G>A
NC_000005.10:g.80728964G>A
NC_000005.9:g.80024783G>A
NM_002439.4:c.1567G>A
More... 		06/21/2021 missense variant benign|likely benign AllHighlyPenetrant; Cancer predisposition; Endometrial carcinoma, somatic; Familial adenomatous polyposis 4; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MSH3
Accession:NM_002439
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532   PMID:33007869  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000961622 CLINVAR
  RCV001012167 CLINVAR
  RCV001800905 CLINVAR
  RCV002479112 CLINVAR
  RCV003960714 CLINVAR
dbSNP (RS) rs34058399 CLINVAR
MedGen C0027672 CLINVAR
  C0476089 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  608089 CLINVAR
  617100 CLINVAR
SNOMED CT 254878006 CLINVAR
  699346009 CLINVAR