RGD:11590303 Rat Genome Database

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Variant: RGD:11590303 -  Homo sapiens

RGD ID: 11590303
RS ID: rs781556463
ClinVar ID: CV286779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR35  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 20,110,329
GRCh38 2 19,910,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001006657.2:c.*2990G>T
NM_020779.4:c.*2990G>T
NM_001006657.1:c.*2990G>T
NG_021212.1:g.84556G>T
More... 		06/14/2016 3 prime utr variant uncertain significance Short rib polydactyly syndrome 5; SHORT-RIB THORACIC DYSPLASIA 7 WITH POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WDR35
Accession:NM_001006657
Location:3UTRS;EXON

Gene Symbol:WDR35
Accession:XM_011533007
Location:3UTRS;EXON

Gene Symbol:WDR35
Accession:NM_020779
Location:3UTRS;EXON

Gene Symbol:WDR35
Accession:XM_047445199
Location:INTRON

Gene Symbol:WDR35
Accession:XR_426989
Location:INTRON;NON-CODING

Gene Symbol:WDR35
Accession:XR_939699
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000317675 CLINVAR
  RCV000372551 CLINVAR
dbSNP (RS) rs781556463 CLINVAR
MedGen C3150874 CLINVAR
  C3279792 CLINVAR
NCBI Gene WDR35 CLINVAR
OMIM 613602 CLINVAR
  613610 CLINVAR
  614091 CLINVAR