RGD:8592988 Rat Genome Database

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Variant: RGD:8592988 -  Homo sapiens

RGD ID: 8592988
RS ID: rs587779035
ClinVar ID: CV95798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 37,055,921
GRCh38 3 37,014,430
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.678-2A>G
LRG_216:g.26081A>G
NG_007109.2:g.26081A>G
NC_000003.12:g.37014430A>G
More... 		03/01/2020 intron variant|splice acceptor variant pathogenic|likely pathogenic Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001167618
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354622
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354625
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354627
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354623
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354621
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354626
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354624
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15713769   PMID:16199547   PMID:22949379   PMID:24362816   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000075815 CLINVAR
  RCV000569823 CLINVAR
  RCV001380125 CLINVAR
  RCV003452761 CLINVAR
dbSNP (RS) rs587779035 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C1333991 CLINVAR
  C4552100 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
  609310 CLINVAR
SNOMED CT 699346009 CLINVAR