RGD:8691997 Rat Genome Database

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Variant: RGD:8691997 -  Homo sapiens

RGD ID: 8691997
RS ID: rs3136335
ClinVar ID: CV141963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,028,314
GRCh38 2 47,801,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_219t1:c.3172+20T>C
LRG_219:g.23029T>C
NG_007111.1:g.23029T>C
NC_000002.12:g.47801175T>C
More... 		05/26/2022 intron variant benign|likely benign AllHighlyPenetrant; Cancer predisposition; Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial carcinoma, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 5; LYNCH SYNDROME 5; Mismatch repair cancer syndrome 3; Neoplastic Syndromes, Hereditary; 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:MSH6
Accession:NM_001281493
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406795
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406803
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281492
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406813
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406822
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406815
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406818
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406819
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406827
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406825
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406798
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406821
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406828
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406807
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406812
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406799
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406823
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406809
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406802
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406814
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406820
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406831
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406796
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406800
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406829
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406801
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001407362
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406797
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406824
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406830
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281494
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406804
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406826
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406816
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406832
Location:INTRON

Gene Symbol:MSH6
Accession:NM_000179
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406811
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406805
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406808
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406817
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406806
Location:INTRON

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126830 CLINVAR
  RCV000580890 CLINVAR
  RCV002055679 CLINVAR
  RCV002477336 CLINVAR
  RCV003149865 CLINVAR
dbSNP (RS) rs3136335 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C0476089 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
  608089 CLINVAR
  614350 CLINVAR
  619097 CLINVAR
SNOMED CT 254878006 CLINVAR
  699346009 CLINVAR