RGD:152165952 Rat Genome Database

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Variant: RGD:152165952 -  Homo sapiens

RGD ID: 152165952
RS ID: rs762514257
ClinVar ID: CV1661100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL13B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 93,699,340
GRCh38 3 93,980,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321328.2:c.-109+14A>G
NM_001174151.2:c.-180+14A>G
NM_001174150.2:c.59+14A>G
NM_144996.4:c.59+14A>G
More... 		11/27/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARL13B
Accession:NM_001321328
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:XM_006713532
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:XM_011512532
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:XM_017005853
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:XM_011512533
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:NM_001174151
Location:5UTRS;INTRON

Gene Symbol:ARL13B
Accession:XM_011512535
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ARL13B
Accession:XM_047447661
Location:INTRON

Gene Symbol:ARL13B
Accession:NM_144996
Location:INTRON

Gene Symbol:ARL13B
Accession:NM_001410782
Location:INTRON

Gene Symbol:ARL13B
Accession:NM_182896
Location:INTRON

Gene Symbol:ARL13B
Accession:NM_001174150
Location:INTRON

Gene Symbol:ARL13B
Accession:NR_033427
Location:INTRON;NON-CODING

Gene Symbol:ARL13B
Accession:NR_135621
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002124127 CLINVAR
dbSNP (RS) rs762514257 CLINVAR
MedGen C2676771 CLINVAR
NCBI Gene ARL13B CLINVAR
OMIM 608922 CLINVAR
  612291 CLINVAR