RGD:152134697 Rat Genome Database

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Variant: RGD:152134697 -  Homo sapiens

RGD ID: 152134697
RS ID: rs2101990567
ClinVar ID: CV1638429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 150,310,821
GRCh38 1 150,338,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004698.4:c.1202+19C>T
NM_001350529.1:c.797+19C>T
NG_008245.1:g.21894C>T
NC_000001.11:g.150338345C>T
More... 		07/31/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF3
Accession:XM_011510132
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_011510130
Location:INTRON

Gene Symbol:PRPF3
Accession:NM_001350529
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_047434009
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_047433995
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_011510131
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_017002791
Location:INTRON

Gene Symbol:PRPF3
Accession:NM_004698
Location:INTRON

Gene Symbol:PRPF3
Accession:XR_007064873
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:XR_007064872
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146768
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146769
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146766
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146767
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002083344 CLINVAR
dbSNP (RS) rs2101990567 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF3 CLINVAR
OMIM 607301 CLINVAR