RGD:14707059 Rat Genome Database

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Variant: RGD:14707059 -  Homo sapiens

RGD ID: 14707059
RS ID: rs1580027713
ClinVar ID: CV651376
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 80,057,499
GRCh38 5 80,761,680
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002439.5:c.1896+2T>C
NG_016607.2:g.112206T>C
NC_000005.10:g.80761680T>C
NC_000005.9:g.80057499T>C
More... 		10/13/2023 splice donor variant pathogenic|likely pathogenic Cancer predisposition; Endometrial carcinoma, somatic; 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:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000805762 CLINVAR
  RCV002406795 CLINVAR
  RCV003336199 CLINVAR
  RCV003467414 CLINVAR
dbSNP (RS) rs1580027713 CLINVAR
MedGen C0027672 CLINVAR
  C0476089 CLINVAR
  C3661900 CLINVAR
  C4310719 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  608089 CLINVAR
  617100 CLINVAR
SNOMED CT 254878006 CLINVAR
  699346009 CLINVAR