RGD:11623980 Rat Genome Database

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Variant: RGD:11623980 -  Homo sapiens

RGD ID: 11623980
RS ID: rs141548037
ClinVar ID: CV344215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 54,635,017
GRCh38 19 54,131,586
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.21228C>T
NC_000019.10:g.54131586C>T
NC_000019.9:g.54635017C>T
NM_015629.3:c.*154C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance 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:PRPF31
Accession:NM_015629
Location:3UTRS;EXON

Gene Symbol:PRPF31
Accession:XM_006723137
Location:3UTRS;EXON

Gene Symbol:PRPF31
Accession:XM_047438587
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000380153 CLINVAR
dbSNP (RS) rs141548037 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene PRPF31 CLINVAR
OMIM 268000 CLINVAR
  606419 CLINVAR
SNOMED CT 28835009 CLINVAR