RGD:12839839 Rat Genome Database

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Variant: RGD:12839839 -  Homo sapiens

RGD ID: 12839839
RS ID: rs763711727
ClinVar ID: CV367447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 37,090,114
GRCh38 3 37,048,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354625.2:c.915+14C>T
NM_001354627.2:c.915+14C>T
NM_001354626.2:c.915+14C>T
NM_001354621.2:c.966+14C>T
More... 		12/11/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001354616
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354622
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354626
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354627
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354621
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354624
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354623
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354625
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000429570 CLINVAR
  RCV000679271 CLINVAR
  RCV000774715 CLINVAR
  RCV001861513 CLINVAR
dbSNP (RS) rs763711727 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
SNOMED CT 699346009 CLINVAR