RGD:15130593 Rat Genome Database

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Variant: RGD:15130593 -  Homo sapiens

RGD ID: 15130593
RS ID: rs1602782101
ClinVar ID: CV760832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCRL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 128,692,739
GRCh38 X 129,558,762
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000276.4:c.560+9C>A
NM_001587.4:c.560+9C>A
NM_001318784.2:c.563+9C>A
NG_008638.1:g.23488C>A
More... 		05/08/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:OCRL
Accession:NM_001587
Location:INTRON

Gene Symbol:OCRL
Accession:NM_000276
Location:INTRON

Gene Symbol:OCRL
Accession:NM_001318784
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000920035 CLINVAR
dbSNP (RS) rs1602782101 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OCRL CLINVAR
OMIM 300535 CLINVAR