RGD:13814491 Rat Genome Database

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Variant: RGD:13814491 -  Homo sapiens

RGD ID: 13814491
RS ID: rs1480671731
ClinVar ID: CV572883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ODAD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,534,699
GRCh38 19 11,424,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_041777.1:g.16753G>A
NC_000019.10:g.11424030C>T
NC_000019.9:g.11534699C>T
NM_001302454.2:c.784-1G>A
More... 		10/10/2019 splice acceptor variant likely pathogenic CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ODAD3
Accession:NM_145045
Location:INTRON

Gene Symbol:ODAD3
Accession:NM_001302453
Location:INTRON

Gene Symbol:ODAD3
Accession:NM_001302454
Location:INTRON

Gene Symbol:ODAD3
Accession:XM_017026241
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25192045   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690912 CLINVAR
dbSNP (RS) rs1480671731 CLINVAR
MedGen C4015016 CLINVAR
NCBI Gene CCDC151 CLINVAR
OMIM 615956 CLINVAR
  616037 CLINVAR