RGD:21075180 Rat Genome Database

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Variant: RGD:21075180 -  Homo sapiens

RGD ID: 21075180
RS ID: rs1602818783
ClinVar ID: CV798165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCRL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 128,722,241
GRCh38 X 129,588,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001587.4:c.2317+1G>A
NM_000276.4:c.2341+1G>A
NM_001318784.2:c.2344+1G>A
NG_008638.1:g.52990G>A
More... 		06/01/2019 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:OCRL
Accession:NM_000276
Location:INTRON

Gene Symbol:OCRL
Accession:NM_001587
Location:INTRON

Gene Symbol:OCRL
Accession:NM_001318784
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000996016 CLINVAR
dbSNP (RS) rs1602818783 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OCRL CLINVAR
OMIM 300535 CLINVAR