RGD:8593031 Rat Genome Database

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Variant: RGD:8593031 -  Homo sapiens

RGD ID: 8593031
RS ID: rs63751597
ClinVar ID: CV95841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 37,056,035
GRCh38 3 37,014,544
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.790C>T
LRG_216:g.26195C>T
NC_000003.12:g.37014544C>T
NC_000003.11:g.37056035C>T
More... 		01/09/2024 5 prime utr variant|missense|missense variant uncertain significance AllHighlyPenetrant; Breast and ovarian cancer; Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Colorectal cancer, hereditary, nonpolyposis, type 1; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 1; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome I; Lynch syndrome II; MLH1-Related Lynch Syndrome; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Lynch Syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001354627
Location:5UTRS;INTRON

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

Gene Symbol:MLH1
Accession:NM_001354625
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_001354622
Location:5UTRS;INTRON

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

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10413423   PMID:10956410   PMID:12386821   PMID:17192056   PMID:18383312   PMID:21153778   PMID:22753075   PMID:23403630   PMID:23760103   PMID:25741868   PMID:28492532   PMID:28591715  
PMID:30998989   PMID:31784484  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000478542 CLINVAR
  RCV000530665 CLINVAR
  RCV000562121 CLINVAR
  RCV001093687 CLINVAR
  RCV001193965 CLINVAR
  RCV003483463 CLINVAR
  RCV003485534 CLINVAR
dbSNP (RS) rs63751597 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C0677776 CLINVAR
  C1333991 CLINVAR
  C2936783 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120435 CLINVAR
  120436 CLINVAR
  609310 CLINVAR
SNOMED CT 699346009 CLINVAR