RGD:405016119 Rat Genome Database

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Variant: RGD:405016119 -  Homo sapiens

RGD ID: 405016119
ClinVar ID: CV2969729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 133,627,275
GRCh38 8 132,615,029
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321966.2:c.555-3666A>G
NM_001321963.2:c.614+9A>G
NM_001321964.2:c.614+9A>G
NM_001321965.2:c.614+9A>G
More... 		11/12/2022 intron variant likely benign CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF11
Accession:XM_047421660
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321966
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_012472
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:INTRON

Gene Symbol:DNAAF11
Accession:NR_135911
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_073525
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135910
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135907
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135909
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135912
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135905
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135913
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135908
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135906
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:XR_007060728
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003649794 CLINVAR
MedGen C3543826 CLINVAR
NCBI Gene DNAAF11 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR