RGD:8592051 Rat Genome Database

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Variant: RGD:8592051 -  Homo sapiens

RGD ID: 8592051
RS ID: rs587779262
ClinVar ID: CV94857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,030,823
GRCh38 2 47,803,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_219t1:c.3437A>C
LRG_219:g.25538A>C
NG_007111.1:g.25538A>C
NC_000002.12:g.47803684A>C
More... 		11/08/2022 missense variant pathogenic|likely pathogenic|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:MSH6
Accession:NM_001406808
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406823
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406831
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406821
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406804
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406795
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406813
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406807
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406817
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406816
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406819
Location:EXON

Gene Symbol:MSH6
Accession:NM_001281494
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406802
Location:EXON

Gene Symbol:MSH6
Accession:NM_001407362
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406815
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406822
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406824
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406820
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406806
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406809
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406812
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406801
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406826
Location:EXON

Gene Symbol:MSH6
Accession:NM_001281492
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406800
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406799
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406796
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406803
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406818
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406797
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406825
Location:EXON

Gene Symbol:MSH6
Accession:NM_000179
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406830
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406811
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406814
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406798
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406829
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406827
Location:EXON

Gene Symbol:MSH6
Accession:NM_001281493
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406828
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406832
Location:EXON

Gene Symbol:MSH6
Accession:NM_001406805
Location:EXON

Gene Symbol:MSH6
Accession:NR_176261
Location:EXON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176259
Location:EXON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176257
Location:EXON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176258
Location:EXON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176256
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:17531815   PMID:21520333   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000491285 CLINVAR
  RCV000545459 CLINVAR
  RCV001355496 CLINVAR
dbSNP (RS) rs587779262 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
SNOMED CT 699346009 CLINVAR