RGD:156152546 Rat Genome Database

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Variant: RGD:156152546 -  Homo sapiens

RGD ID: 156152546
ClinVar ID: CV2131851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,631,430
GRCh38 19 54,128,055
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.946-18C>T
NG_009759.2:g.17303C>T
NG_009759.1:g.17641C>T
NC_000019.10:g.54128055C>T
More... 		01/11/2022 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 RCV002982704 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 606419 CLINVAR