RGD:10768464 Rat Genome Database

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Variant: RGD:10768464 -  Homo sapiens

RGD ID: 10768464
RS ID: rs115200161
ClinVar ID: CV221689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 21,747,312
GRCh38 7 21,707,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012886.2:g.169480C>G
NC_000007.14:g.21707694C>G
NC_000007.13:g.21747312C>G
NM_001277115.2:c.6547-5C>G
More... 		12/03/2021 intron variant benign|likely benign AllHighlyPenetrant; CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS; none provided
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000206450 CLINVAR
  RCV000243051 CLINVAR
  RCV001163920 CLINVAR
  RCV001572261 CLINVAR
dbSNP (RS) rs115200161 CLINVAR
MedGen C0008780 CLINVAR
  C2678473 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR
  611884 CLINVAR