RGD:11647808 Rat Genome Database

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Variant: RGD:11647808 -  Homo sapiens

RGD ID: 11647808
RS ID: rs886052373
ClinVar ID: CV342523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF1  TAF1C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 84,211,463
GRCh38 16 84,177,857
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021174.1:g.37599T>C
NC_000016.10:g.84177857T>C
NC_000016.9:g.84211463T>C
NM_178452.4:c.*16T>C
More... 		01/12/2018 3 prime utr variant uncertain significance CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TAF1C
Accession:XM_005256227
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:NM_001318756
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_017022918
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:NM_178452
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_001243157
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:XM_005256226
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_011522853
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_017022920
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_001243156
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_139353
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_001243160
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:XM_017023847
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_005679
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_017022919
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_001243158
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_006721129
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:NM_001243159
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:XM_006721326
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_011522854
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:XM_006721325
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_011522855
Location:3UTRS;EXON

Gene Symbol:TAF1C
Accession:XM_017023845
Location:3UTRS;EXON

Gene Symbol:DNAAF1
Accession:XM_011522858
Location:INTRON

Gene Symbol:DNAAF1
Accession:XM_011522857
Location:INTRON

Gene Symbol:DNAAF1
Accession:XM_047433590
Location:INTRON

Gene Symbol:DNAAF1
Accession:XM_047433589
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278690 CLINVAR
dbSNP (RS) rs886052373 CLINVAR
MedGen C2750790 CLINVAR
NCBI Gene DNAAF1 CLINVAR
  TAF1C CLINVAR
OMIM 604905 CLINVAR
  613190 CLINVAR
  613193 CLINVAR