rs2109300292 Rat Genome Database

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Variant: rs2109300292 -  Homo sapiens

RGD ID: 151764359
RS ID: rs2109300292
ClinVar ID: CV1403139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR19  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 39,206,890
GRCh38 4 39,205,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317924.2:c.236+4T>A
NM_025132.4:c.716+4T>A
NG_031813.1:g.27867T>A
NC_000004.12:g.39205270T>A
More... 		10/12/2021 intron variant uncertain significance Senior-Loken syndrome 8; SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WDR19
Accession:XM_047416031
Location:INTRON

Gene Symbol:WDR19
Accession:XM_047416033
Location:INTRON

Gene Symbol:WDR19
Accession:XM_047416035
Location:INTRON

Gene Symbol:WDR19
Accession:XM_011513725
Location:INTRON

Gene Symbol:WDR19
Accession:NM_001317924
Location:INTRON

Gene Symbol:WDR19
Accession:XM_047416034
Location:INTRON

Gene Symbol:WDR19
Accession:XM_047416030
Location:INTRON

Gene Symbol:WDR19
Accession:NM_025132
Location:INTRON

Gene Symbol:WDR19
Accession:XM_011513724
Location:INTRON

Gene Symbol:WDR19
Accession:XM_047416032
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001914348 CLINVAR
dbSNP (RS) rs2109300292 CLINVAR
MedGen C3280598 CLINVAR
NCBI Gene WDR19 CLINVAR
OMIM 608151 CLINVAR
  614376 CLINVAR
  616307 CLINVAR