RGD:11632024 Rat Genome Database

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Variant: RGD:11632024 -  Homo sapiens

RGD ID: 11632024
RS ID: rs190283912
ClinVar ID: CV351762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RIPK4  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,159,637
GRCh38 21 41,739,477
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
NC_000021.9:g.41739477A>T
NC_000021.8:g.43159637A>T
NM_020639.3:c.*1361T>A
NG_032113.2:g.32613T>A
More... 		06/14/2016 3 prime utr variant uncertain significance neonatal 1-9 / 1 000 000 Bartsocas-Papas syndrome; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE; Popliteal pterygium syndrome lethal type; PTERYGIUM, POPLITEAL, LETHAL TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RIPK4
Accession:NM_020639
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000396320 CLINVAR
dbSNP (RS) rs190283912 CLINVAR
MedGen C1849718 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 263650 CLINVAR
  605706 CLINVAR