RGD:151833378 Rat Genome Database

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Variant: RGD:151833378 -  Homo sapiens

RGD ID: 151833378
RS ID: rs2146420442
ClinVar ID: CV1493115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 54,627,127
GRCh38 19 54,123,748
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.528-1G>A
NG_009759.1:g.13338G>A
NC_000019.10:g.54123748G>A
NC_000019.9:g.54627127G>A
More... 		06/01/2023 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF31
Accession:XM_047438587
Location:INTRON

Gene Symbol:PRPF31
Accession:NM_015629
Location:INTRON

Gene Symbol:PRPF31
Accession:XM_006723137
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17325180   PMID:18317597   PMID:23950152   PMID:28492532   PMID:29099798  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001935280 CLINVAR
dbSNP (RS) rs2146420442 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 606419 CLINVAR