RGD:13436251 Rat Genome Database

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Variant: RGD:13436251 -  Homo sapiens

RGD ID: 13436251
RS ID: rs376388391
ClinVar ID: CV434045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR35  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 20,147,985
GRCh38 2 19,948,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021212.1:g.46900A>G
NC_000002.12:g.19948224T>C
NC_000002.11:g.20147985T>C
NM_020779.4:c.1471-7A>G
More... 		04/19/2018 intron variant benign|likely benign AllHighlyPenetrant; Short rib polydactyly syndrome 5; SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; 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:INTRON

Gene Symbol:WDR35
Accession:XM_011533007
Location:INTRON

Gene Symbol:WDR35
Accession:NM_020779
Location:INTRON

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 References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000506845 CLINVAR
  RCV000964763 CLINVAR
  RCV003960203 CLINVAR
dbSNP (RS) rs376388391 CLINVAR
MedGen C3150874 CLINVAR
  CN169374 CLINVAR
NCBI Gene WDR35 CLINVAR
OMIM 613602 CLINVAR
  613610 CLINVAR
  614091 CLINVAR