RGD:13626804 Rat Genome Database

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Variant: RGD:13626804 -  Homo sapiens

RGD ID: 13626804
RS ID: rs906969002
ClinVar ID: CV528283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 75,485,685
GRCh38 14 75,018,982
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_217t1:c.4091-2A>C
LRG_217:g.37551A>C
NG_008649.1:g.37551A>C
NC_000014.9:g.75018982T>G
More... 		05/01/2018 splice acceptor variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH3
Accession:XM_047431266
Location:3UTRS;INTRON

Gene Symbol:MLH3
Accession:XM_006720116
Location:INTRON

Gene Symbol:MLH3
Accession:XM_017021219
Location:INTRON

Gene Symbol:MLH3
Accession:XM_005267534
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431267
Location:INTRON

Gene Symbol:MLH3
Accession:NM_014381
Location:INTRON

Gene Symbol:MLH3
Accession:XM_024449538
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431265
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431268
Location:INTRON

Gene Symbol:MLH3
Accession:NM_001040108
Location:INTRON

Gene Symbol:MLH3
Accession:XM_005267532
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431269
Location:INTRON

Gene Symbol:MLH3
Accession:XM_005267533
Location:INTRON

Gene Symbol:MLH3
Accession:XR_245681
Location:INTRON;NON-CODING

Gene Symbol:MLH3
Accession:XR_001750225
Location:INTRON;NON-CODING

Gene Symbol:MLH3
Accession:XR_007064005
Location:INTRON;NON-CODING

Gene Symbol:MLH3
Accession:XR_007064004
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000779147 CLINVAR
dbSNP (RS) rs906969002 CLINVAR
MedGen C1858380 CLINVAR
NCBI Gene MLH3 CLINVAR
OMIM 604395 CLINVAR
  614385 CLINVAR