RGD:8592055 Rat Genome Database

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Variant: RGD:8592055 -  Homo sapiens

RGD ID: 8592055
RS ID: rs370170322
ClinVar ID: CV94861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,030,830
GRCh38 2 47,803,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_219t1:c.3438+6T>C
LRG_219:g.25545T>C
NG_007111.1:g.25545T>C
NC_000002.12:g.47803691T>C
More... 		10/19/2020 intron variant likely benign|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_001406803
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406831
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406795
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406800
Location:INTRON

Gene Symbol:MSH6
Accession:NM_000179
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406813
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281494
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406814
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406806
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406830
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406799
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406818
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281492
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406798
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406804
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406825
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406824
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_001406812
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406801
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406827
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406796
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406805
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406829
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406811
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001407362
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406820
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406817
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406816
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406815
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406821
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281493
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406807
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406808
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406797
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406828
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406826
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406819
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406822
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406832
Location:INTRON

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000546237 CLINVAR
  RCV000774608 CLINVAR
  RCV001703972 CLINVAR
dbSNP (RS) rs370170322 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
SNOMED CT 699346009 CLINVAR