RGD:156119967 Rat Genome Database

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Variant: RGD:156119967 -  Homo sapiens

RGD ID: 156119967
ClinVar ID: CV1959216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 116,048,979
GRCh38 9 113,286,699
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001244926.2:c.809-6C>T
NM_004697.5:c.812-6C>T
NM_001322266.2:c.83-6C>T
NM_001322267.2:c.83-6C>T
More... 		11/08/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF4
Accession:NM_001322267
Location:INTRON

Gene Symbol:PRPF4
Accession:NM_001322266
Location:INTRON

Gene Symbol:PRPF4
Accession:NM_001244926
Location:INTRON

Gene Symbol:PRPF4
Accession:NM_004697
Location:INTRON

Gene Symbol:PRPF4
Accession:NR_136265
Location:INTRON;NON-CODING

Gene Symbol:PRPF4
Accession:NR_136266
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002571824 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF4 CLINVAR
OMIM 607795 CLINVAR