RGD:34889149 Rat Genome Database

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Variant: RGD:34889149 -  Homo sapiens

RGD ID: 34889149
RS ID: rs2082519516
ClinVar ID: CV915617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 37,055,915
GRCh38 3 37,014,424
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354621.2:c.-140+2325T>A
NM_001354625.2:c.-149-8T>A
NM_001354626.2:c.-149-8T>A
NM_001258274.3:c.-46-8T>A
More... 		02/09/2020 intron variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

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

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

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

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

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

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

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

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

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

Gene Symbol:MLH1
Accession:NM_001167618
Location:5UTRS;INTRON

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

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

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

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

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

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

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

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

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001181279 CLINVAR
dbSNP (RS) rs2082519516 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
SNOMED CT 699346009 CLINVAR