RGD:34898378 Rat Genome Database

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Variant: RGD:34898378 -  Homo sapiens

RGD ID: 34898378
RS ID: rs1383449317
ClinVar ID: CV915627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127397073  MLH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 37,035,163
GRCh38 3 36,993,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.37035163G>A
NM_000249.3:c.116+9G>A
LRG_216t1:c.116+9G>A
NM_000249.4:c.116+9G>A
More... 		11/16/2018 5 prime utr variant likely benign 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_001354622
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:MLH1
Accession:NM_001354620
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001187189 CLINVAR
  RCV001396920 CLINVAR
dbSNP (RS) rs1383449317 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
SNOMED CT 699346009 CLINVAR