RGD:11634540 Rat Genome Database

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Variant: RGD:11634540 -  Homo sapiens

RGD ID: 11634540
RS ID: rs28757060
ClinVar ID: CV330613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 75,481,611
GRCh38 14 75,014,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_217t1:c.*2174C>T
LRG_217:g.41625C>T
NG_008649.1:g.41625C>T
NC_000014.9:g.75014908G>A
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH3
Accession:XM_024449538
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:XM_006720116
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:XM_047431265
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:XM_005267533
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:XM_005267532
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:NM_001040108
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:NM_014381
Location:3UTRS;EXON

Gene Symbol:MLH3
Accession:XM_017021219
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:MLH3
Accession:XM_005267534
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431266
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431267
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431268
Location:INTRON

Gene Symbol:MLH3
Accession:XM_047431269
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000336427 CLINVAR
dbSNP (RS) rs28757060 CLINVAR
MedGen C1858380 CLINVAR
NCBI Gene MLH3 CLINVAR
OMIM 604395 CLINVAR
  614385 CLINVAR