RGD:127329498 Rat Genome Database

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Variant: RGD:127329498 -  Homo sapiens

RGD ID: 127329498
RS ID: rs375702839
ClinVar ID: CV1149087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,632,573
GRCh38 19 54,129,198
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.1275+13C>T
NG_009759.1:g.18784C>T
NC_000019.10:g.54129198C>T
NC_000019.9:g.54632573C>T
10/26/2020 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 RCV001487442 CLINVAR
dbSNP (RS) rs375702839 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 606419 CLINVAR