RGD:8555380 Rat Genome Database

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Variant: RGD:8555380 -  Homo sapiens

RGD ID: 8555380
RS ID: rs397515534
ClinVar ID: CV15059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR35  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 20,189,045
GRCh38 2 19,989,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_021212.1:g.5840A>G
NC_000002.12:g.19989284T>C
NC_000002.11:g.20189045T>C
NM_020779.4:c.25-2A>G
More... 		09/09/2013 2kb upstream variant|splice acceptor variant|splice-3 pathogenic antenatal|neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WDR35
Accession:XM_011533007
Location:INTRON

Gene Symbol:WDR35
Accession:NM_020779
Location:INTRON

Gene Symbol:WDR35
Accession:NM_001006657
Location:INTRON

Gene Symbol:WDR35
Accession:XM_047445199
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:20817137  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000037 CLINVAR
dbSNP (RS) rs397515534 CLINVAR
MedGen C3150874 CLINVAR
NCBI Gene WDR35 CLINVAR
OMIM 613602 CLINVAR
  613610 CLINVAR
OMIM Allele 613602.0001 CLINVAR