RGD:28909833 Rat Genome Database

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Variant: RGD:28909833 -  Homo sapiens

RGD ID: 28909833
RS ID: rs201443830
ClinVar ID: CV882933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,626,824
GRCh38 19 54,123,445
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.421-9C>T
NG_009759.1:g.13035C>T
NC_000019.10:g.54123445C>T
NC_000019.9:g.54626824C>T
More... 		09/02/2021 intron variant likely benign|uncertain significance none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:PRPF31
Accession:XM_006723137
Location:INTRON

Gene Symbol:PRPF31
Accession:NM_015629
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 RCV001129017 CLINVAR
  RCV002070502 CLINVAR
dbSNP (RS) rs201443830 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 268000 CLINVAR
  606419 CLINVAR
SNOMED CT 28835009 CLINVAR