RGD:11626552 Rat Genome Database

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Variant: RGD:11626552 -  Homo sapiens

RGD ID: 11626552
RS ID: rs202070628
ClinVar ID: CV346507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127894728  RIPK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,161,214
GRCh38 21 41,741,054
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.41741054G>A
NC_000021.8:g.43161214G>A
NP_065690.2:p.His713=
NM_020639.3:c.2139C>T
More... 		06/14/2016 synonymous 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:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 713
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGDGGTPWALALLRTFDAGEFTGWEKVGSGGFGQVYKVRHVHWKTWLAIKCSPSLHVDDRERMELLEEAKKMEMAKFRY
ILPVYGICREPVGLVMEYMETGSLEKLLASEPLPWDLRFRIIHETAVGMNFLHCMAPPLLHLDLKPANILLDAHYHVKIS
DFGLAKCNGLSHSHDLSMDGLFGTIAYLPPERIREKSRLFDTKHDVYSFAIVIWGVLTQKKPFADEKNILHIMVKVVKGH
RPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQEITSETEDLCEKPDDEVKETAHDLDVKSPPEPRSEVVPARLKR
ASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLSGVSSVDSAFSSRGSLSLSFEREPSTSDL
GTTDVQKKKLVDAIVSGDTSKLMKILQPQDVDLALDSGASLLHLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVE
RRVRGVVELLLARKISVNAKDEDQWTALHFAAQNGDESSTRLLLEKNASVNEVDFEGRTPMHVACQHGQENIVRILLRRG
VDVSLQGKDAWLPLHYAAWQGHLPIVKLLAKQPGVSVNAQTLDGRTPLHLAAQRGHYRVARILIDLCSDVNVCSLLAQTP
LHVAAETGHTSTARLLLHRGAGKEAMTSDGYTALHLAARNGHLATVKLLVEEKADVLARGPLNQTALHLAAAHGHSEVVE
ELVSADVIDLFDEQGLSALHLAAQGRHAQTVETLLRHGAHINLQSLKFQGGHGPAATLLRRSKT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000266277 CLINVAR
dbSNP (RS) rs202070628 CLINVAR
MedGen C1849718 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 263650 CLINVAR
  605706 CLINVAR