RGD:150453715 Rat Genome Database

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Variant: RGD:150453715 -  Homo sapiens

RGD ID: 150453715
RS ID: rs2146380786
ClinVar ID: CV1203876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,619,178
GRCh38 19 54,115,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015629.4:c.-9+1G>A
NG_009759.1:g.5389G>A
NC_000019.10:g.54115798G>A
NC_000019.9:g.54619178G>A
More... 		06/21/2021 splice donor variant likely pathogenic RP 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPF31
Accession:XM_006723137
Location:5UTRS;INTRON

Gene Symbol:PRPF31
Accession:NM_015629
Location:5UTRS;INTRON

Gene Symbol:PRPF31
Accession:XM_047438587
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001591825 CLINVAR
dbSNP (RS) rs2146380786 CLINVAR
MedGen C1838601 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 600138 CLINVAR
  606419 CLINVAR