RGD:156024138 Rat Genome Database

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Variant: RGD:156024138 -  Homo sapiens

RGD ID: 156024138
ClinVar ID: CV2145511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 79,960,960
GRCh38 5 80,665,141
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.359-2A>G
NG_016607.2:g.15667A>G
NC_000005.10:g.80665141A>G
NC_000005.9:g.79960960A>G
 02/04/2022 splice acceptor variant likely pathogenic none provided
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:16199547   PMID:27476653   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003018373 CLINVAR
  RCV003458889 CLINVAR
MedGen C3661900 CLINVAR
  C4310719 CLINVAR
NCBI Gene MSH3 CLINVAR
OMIM 600887 CLINVAR
  617100 CLINVAR