RGD:11645086 Rat Genome Database

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Variant: RGD:11645086 -  Homo sapiens

RGD ID: 11645086
RS ID: rs886055672
ClinVar ID: CV284869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OBSL1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 220,436,119
GRCh38 2 219,571,397
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016977.1:g.5150G>C
NC_000002.12:g.219571397C>G
NC_000002.11:g.220436119C>G
NM_001173408.2:c.-165G>C
More... 		06/14/2016 5 prime utr variant uncertain significance Three M syndrome 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OBSL1
Accession:XM_011510864
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_017003698
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_017003699
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_017003700
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_011510866
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_017003697
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:NM_015311
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_011510863
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_011510865
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_047443799
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:NM_001173431
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_011510857
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:NM_001173408
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_017003696
Location:5UTRS;EXON

Gene Symbol:OBSL1
Accession:XM_047443800
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263382 CLINVAR
dbSNP (RS) rs886055672 CLINVAR
MedGen C2752041 CLINVAR
NCBI Gene OBSL1 CLINVAR
OMIM 610991 CLINVAR
  612921 CLINVAR