RGD:9834435 Rat Genome Database

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Variant: RGD:9834435 -  Homo sapiens

RGD ID: 9834435
RS ID: rs377598055
ClinVar ID: CV180142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 37,059,106
GRCh38 3 37,017,615
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_216t1:c.884+16A>G
LRG_216:g.29266A>G
NG_007109.2:g.29266A>G
NC_000003.12:g.37017615A>G
More... 		11/03/2021 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adult AllHighlyPenetrant; 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; none provided; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001354622
Location:5UTRS;INTRON

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

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

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

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

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

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

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000160557 CLINVAR
  RCV000411740 CLINVAR
  RCV000579749 CLINVAR
  RCV000589525 CLINVAR
  RCV002053926 CLINVAR
  RCV003149976 CLINVAR
dbSNP (RS) rs377598055 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C1333991 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
  609310 CLINVAR
SNOMED CT 699346009 CLINVAR