RGD:405691512 Rat Genome Database

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Variant: RGD:405691512 -  Homo sapiens

RGD ID: 405691512
ClinVar ID: CV3227493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPSF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,626,317
GRCh38 8 144,400,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013291.3:c.539+1G>A
NC_000008.11:g.144400923C>T
NC_000008.10:g.145626317C>T
 04/04/2024 splice donor variant likely pathogenic MYOPIA 27, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View
Myopia 27  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CPSF1
Accession:XM_047421735
Location:INTRON

Gene Symbol:CPSF1
Accession:XM_047421736
Location:INTRON

Gene Symbol:CPSF1
Accession:XM_047421732
Location:INTRON

Gene Symbol:CPSF1
Accession:XM_047421733
Location:INTRON

Gene Symbol:CPSF1
Accession:XM_006716548
Location:INTRON

Gene Symbol:CPSF1
Accession:XM_047421734
Location:INTRON

Gene Symbol:CPSF1
Accession:NM_013291
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003991838 CLINVAR
MedGen C5394215 CLINVAR
NCBI Gene CPSF1 CLINVAR
OMIM 606027 CLINVAR
  618827 CLINVAR