RGD:13214308 Rat Genome Database

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Variant: RGD:13214308 -  Homo sapiens

RGD ID: 13214308
RS ID: rs201384117
ClinVar ID: CV430812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,933,631
GRCh38 X 49,075,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.49075972T>G
NC_000023.10:g.48933631T>G
NM_007075.4:c.440-27A>C
NM_001029896.2:c.437-27A>C
More... 		05/02/2016 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WDR45
Accession:NM_001029896
Location:INTRON

Gene Symbol:WDR45
Accession:NM_007075
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000501103 CLINVAR
dbSNP (RS) rs201384117 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR