rs1323632331 Rat Genome Database

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Variant: rs1323632331 -  Homo sapiens

RGD ID: 151877801
RS ID: rs1323632331
ClinVar ID: CV1337706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 116,048,574
GRCh38 9 113,286,294
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.808+4A>C
NM_004697.5:c.811+4A>C
NM_001322266.2:c.82+4A>C
NM_001322267.2:c.82+4A>C
More... 		10/03/2023 intron variant uncertain significance none provided

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

Gene Symbol:PRPF4
Accession:NM_001244926
Location:INTRON

Gene Symbol:PRPF4
Accession:NM_001322266
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001926044 CLINVAR
dbSNP (RS) rs1323632331 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF4 CLINVAR
OMIM 607795 CLINVAR