RGD:11632130 Rat Genome Database

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Variant: RGD:11632130 -  Homo sapiens

RGD ID: 11632130
RS ID: rs552693721
ClinVar ID: CV346823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887611  MILR1  POLG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,493,147
GRCh38 17 64,497,029
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013029.1:g.5038G>A
NC_000017.11:g.64497029C>T
NC_000017.10:g.62493147C>T
NM_007215.4:c.-61G>A
More... 		01/13/2018 5 prime utr variant benign|likely benign PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MILR1
Accession:XM_024450708
Location:3UTRS;EXON

Gene Symbol:POLG2
Accession:NM_007215
Location:5UTRS;EXON

Gene Symbol:POLG2
Accession:XM_047435221
Location:5UTRS;EXON

Gene Symbol:POLG2
Accession:XM_047435223
Location:5UTRS;EXON

Gene Symbol:POLG2
Accession:XM_047435224
Location:5UTRS;EXON

Gene Symbol:POLG2
Accession:XM_047435222
Location:5UTRS;EXON

Gene Symbol:MILR1
Accession:XR_002957990
Location:EXON;NON-CODING

Gene Symbol:POLG2
Accession:XR_007065259
Location:EXON;NON-CODING

Gene Symbol:MILR1
Accession:NM_001085423
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435791
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435789
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435790
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001369493
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435792
Location:INTRON

Gene Symbol:MILR1
Accession:XM_024450707
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001291316
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435793
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001291317
Location:INTRON

Gene Symbol:MILR1
Accession:XR_002957989
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000399241 CLINVAR
dbSNP (RS) rs552693721 CLINVAR
MedGen C1864668 CLINVAR
NCBI Gene MILR1 CLINVAR
  POLG2 CLINVAR
OMIM 604983 CLINVAR
  610131 CLINVAR