RGD:8592524 Rat Genome Database

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Variant: RGD:8592524 -  Homo sapiens

RGD ID: 8592524
RS ID: rs267607854
ClinVar ID: CV95333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 37,089,009
GRCh38 3 37,047,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.1732-1G>A
LRG_216:g.59169G>A
NG_007109.2:g.59169G>A
NC_000003.12:g.37047518G>A
More... 		07/21/2023 intron variant|splice acceptor variant|splice-3 pathogenic|likely pathogenic Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Colon carcinoma; Colonic carcinoma; 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001258273
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354624
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354626
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354627
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354623
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354622
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354625
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354621
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8571956   PMID:10612827   PMID:12696065   PMID:15849733   PMID:15955785   PMID:18561205   PMID:19267393   PMID:21404117   PMID:21520333   PMID:24090359   PMID:28492532   PMID:28514183  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000075333 CLINVAR
  RCV001355292 CLINVAR
  RCV002408578 CLINVAR
  RCV002514342 CLINVAR
  RCV003451057 CLINVAR
dbSNP (RS) rs267607854 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C0699790 CLINVAR
  C1333991 CLINVAR
  C4552100 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
  609310 CLINVAR
SNOMED CT 269533000 CLINVAR
  699346009 CLINVAR