RGD:34897361 Rat Genome Database

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Variant: RGD:34897361 -  Homo sapiens

RGD ID: 34897361
RS ID: rs1406816622
ClinVar ID: CV908861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,010,353
GRCh38 2 47,783,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_219t1:c.-20G>C
NM_000179.3:c.-20G>C
LRG_219:g.5068G>C
NG_007111.1:g.5068G>C
More... 		07/10/2019 5 prime utr 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_000179
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001281493
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001281492
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406809
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406796
Location:5UTRS;EXON

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

Gene Symbol:MSH6
Accession:NM_001406805
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406795
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406802
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406813
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406807
Location:5UTRS;EXON

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

Gene Symbol:MSH6
Accession:NM_001406808
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406800
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406798
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406803
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406817
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001407362
Location:5UTRS;EXON

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

Gene Symbol:MSH6
Accession:NM_001406799
Location:5UTRS;EXON

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

Gene Symbol:MSH6
Accession:NM_001406804
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406797
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406801
Location:5UTRS;EXON

Gene Symbol:MSH6
Accession:NM_001406806
Location:5UTRS;EXON

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

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_176261
Location:EXON;NON-CODING

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

Gene Symbol:MSH6
Accession:NM_001281494
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_001406829
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_001406823
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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001186398 CLINVAR
dbSNP (RS) rs1406816622 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
SNOMED CT 699346009 CLINVAR