RGD:28909743 Rat Genome Database

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Variant: RGD:28909743 -  Homo sapiens

RGD ID: 28909743
RS ID: rs1783074282
ClinVar ID: CV900343
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 21,901,462
GRCh38 7 21,861,844
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.11203-9A>G
NG_012886.2:g.323630A>G
NC_000007.14:g.21861844A>G
NC_000007.13:g.21901462A>G
More... 		01/13/2018 intron variant uncertain significance 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 Information

Database Acc Id Source(s)
ClinVar RCV001160832 CLINVAR
dbSNP (RS) rs1783074282 CLINVAR
MedGen C2678473 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR
  611884 CLINVAR