RGD:26918744 Rat Genome Database

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Variant: RGD:26918744 -  Homo sapiens

RGD ID: 26918744
RS ID: rs774855011
ClinVar ID: CV852074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 21,641,013
GRCh38 7 21,601,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277115.2:c.3426-1G>A
NG_012886.2:g.63181G>A
NC_000007.14:g.21601395G>A
NC_000007.13:g.21641013G>A
More... 		12/13/2019 splice acceptor variant pathogenic|likely pathogenic CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAH11
Accession:NM_001277115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18022865   PMID:20513915   PMID:22184204   PMID:25741868   PMID:28492532   PMID:28976722  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001058221 CLINVAR
  RCV003985835 CLINVAR
dbSNP (RS) rs774855011 CLINVAR
MedGen C0008780 CLINVAR
  C2678473 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR
  611884 CLINVAR