RGD:25318152 Rat Genome Database

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Variant: RGD:25318152 -  Homo sapiens

RGD ID: 25318152
RS ID: rs1575375250
ClinVar ID: CV807517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 37,035,036
GRCh38 3 36,993,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354623.2:c.-1068A>T
NM_001354620.2:c.-287A>T
NM_001258271.2:c.-3A>T
NG_007109.2:g.5196A>T
More... 		02/20/2018 5 prime utr 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_001354620
Location:5UTRS;EXON

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

Gene Symbol:MLH1
Accession:NM_001167617
Location:5UTRS;EXON

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

Gene Symbol:MLH1
Accession:NM_001258271
Location:5UTRS;EXON

Gene Symbol:MLH1
Accession:XM_005265161
Location:5UTRS;EXON

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

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

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

Gene Symbol:MLH1
Accession:NM_000249
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:MLH1
Accession:NM_001354628
Location:5UTRS;EXON

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

Gene Symbol:MLH1
Accession:NM_001354629
Location:5UTRS;EXON

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

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

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

Gene Symbol:MLH1
Accession:NM_001354630
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001021623 CLINVAR
dbSNP (RS) rs1575375250 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
SNOMED CT 699346009 CLINVAR