RGD:11615473 Rat Genome Database

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Variant: RGD:11615473 -  Homo sapiens

RGD ID: 11615473
RS ID: rs576215477
ClinVar ID: CV336833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127894728  RIPK4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,160,717
GRCh38 21 41,740,557
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.41740557C>T
NC_000021.8:g.43160717C>T
NM_020639.3:c.*281G>A
NG_032113.2:g.31533G>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 RCV000286407 CLINVAR
dbSNP (RS) rs576215477 CLINVAR
MedGen C1849718 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 263650 CLINVAR
  605706 CLINVAR