RGD:14703310 Rat Genome Database

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Variant: RGD:14703310 -  Homo sapiens

RGD ID: 14703310
RS ID: rs1245725634
ClinVar ID: CV651416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 79,966,131
GRCh38 5 80,670,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.80670312A>G
NM_002439.5:c.792+3A>G
NM_002439.4:c.792+3A>G
NG_016607.1:g.20838A>G
More... 		10/21/2022 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000793176 CLINVAR
  RCV002422681 CLINVAR
dbSNP (RS) rs1245725634 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
SNOMED CT 699346009 CLINVAR