RGD:127289921 Rat Genome Database

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Variant: RGD:127289921 -  Homo sapiens

RGD ID: 127289921
RS ID: rs1568597950
ClinVar ID: CV1128152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 54,631,660
GRCh38 19 54,128,285
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.54128285G>A
NC_000019.9:g.54631660G>A
NG_009759.1:g.17871G>A
NM_015629.4:c.1074-20G>A
 10/24/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF31
Accession:NM_015629
Location:INTRON

Gene Symbol:PRPF31
Accession:XM_006723137
Location:INTRON

Gene Symbol:PRPF31
Accession:XM_047438587
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001451033 CLINVAR
dbSNP (RS) rs1568597950 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 606419 CLINVAR