RGD:34894482 Rat Genome Database

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Variant: RGD:34894482 -  Homo sapiens

RGD ID: 34894482
RS ID: rs1669237761
ClinVar ID: CV915584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 48,025,745
GRCh38 2 47,798,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281493.2:c.-279-5G>T
NM_001281494.2:c.-275-9G>T
NC_000002.12:g.47798606G>T
NM_000179.3:c.628-5G>T
More... 		06/19/2019 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSH6
Accession:NM_001281493
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001281494
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406811
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406814
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406812
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406816
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406815
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406829
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_001406823
Location:5UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_000179
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281492
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406809
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406796
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406805
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406795
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406802
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406813
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406807
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406808
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406800
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406798
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406803
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406817
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001407362
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406799
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406804
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406797
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406801
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406806
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406818
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406821
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406828
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406826
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406825
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406819
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406822
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406827
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406824
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406820
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406830
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406832
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406831
Location:INTRON

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

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

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_176256
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001184641 CLINVAR
dbSNP (RS) rs1669237761 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
SNOMED CT 699346009 CLINVAR