RGD:8573575 Rat Genome Database

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Variant: RGD:8573575 -  Homo sapiens

RGD ID: 8573575
RS ID: rs587777058
ClinVar ID: CV77873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPH1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,905,917
GRCh38 21 42,485,807
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000021.9:g.42485807G>T
NC_000021.8:g.43905917G>T
NM_080860.2:c.366-3C>A
NM_080860.4:c.366-3C>A
More... 		07/28/2023 intron variant pathogenic neonatal/infancy 1-5 / 10 000|1-9 / 100 000 CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPH1
Accession:XM_005261208
Location:INTRON

Gene Symbol:RSPH1
Accession:XM_011529786
Location:INTRON

Gene Symbol:RSPH1
Accession:NM_080860
Location:INTRON

Gene Symbol:RSPH1
Accession:NM_001286506
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:23993197   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057510 CLINVAR
  RCV003534322 CLINVAR
dbSNP (RS) rs587777058 CLINVAR
MedGen C0008780 CLINVAR
  C3809634 CLINVAR
NCBI Gene RSPH1 CLINVAR
OMIM 609314 CLINVAR
  615481 CLINVAR
OMIM Allele 609314.0002 CLINVAR