RGD:10052821 Rat Genome Database

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Variant: RGD:10052821 -  Homo sapiens

RGD ID: 10052821
RS ID: rs376994481
ClinVar ID: CV195381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,626,948
GRCh38 19 54,123,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009759.1:g.13159G>T
NC_000019.10:g.54123569G>T
NC_000019.9:g.54626948G>T
NM_015629.4:c.527+9G>T
More... 		10/27/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; RP 11; 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 RCV000179492 CLINVAR
  RCV000625320 CLINVAR
  RCV001129022 CLINVAR
  RCV001698995 CLINVAR
dbSNP (RS) rs376994481 CLINVAR
MedGen C0035334 CLINVAR
  C1838601 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 268000 CLINVAR
  600138 CLINVAR
  606419 CLINVAR
SNOMED CT 28835009 CLINVAR