RGD:28907757 Rat Genome Database

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Variant: RGD:28907757 -  Homo sapiens

RGD ID: 28907757
RS ID: rs559073925
ClinVar ID: CV898907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 133,584,491
GRCh38 8 132,572,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_135913.2:n.2218C>A
NR_135912.2:n.2531C>A
NR_135908.2:n.986C>A
NM_012472.4:c.*63C>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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:NM_001321966
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_012472
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:3UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159715 CLINVAR
dbSNP (RS) rs559073925 CLINVAR
MedGen C3543826 CLINVAR
NCBI Gene LRRC6 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR