RGD:405156651 Rat Genome Database

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Variant: RGD:405156651 -  Homo sapiens

RGD ID: 405156651
ClinVar ID: CV3109336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR35  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 20,182,302
GRCh38 2 19,982,541
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.143-7G>A
NM_020779.4:c.143-7G>A
NC_000002.11:g.20182302C>T
NG_021212.1:g.12583G>A
More... 		06/27/2023 intron variant likely benign 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_020779
Location:INTRON

Gene Symbol:WDR35
Accession:XM_047445199
Location:INTRON

Gene Symbol:WDR35
Accession:NM_001006657
Location:INTRON

Gene Symbol:WDR35
Accession:XM_011533007
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003801859 CLINVAR
MedGen C3150874 CLINVAR
NCBI Gene WDR35 CLINVAR
OMIM 613602 CLINVAR
  613610 CLINVAR
  614091 CLINVAR