RGD:28898798 Rat Genome Database

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Variant: RGD:28898798 -  Homo sapiens

RGD ID: 28898798
RS ID: rs202049606
ClinVar ID: CV886827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RIPK4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 43,161,574
GRCh38 21 41,741,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020639.3:c.1779G>A
NC_000021.8:g.43161574C>T
NM_020639.2:c.1779G>A
NP_065690.2:p.Pro593=
More... 		03/23/2018 synonymous variant uncertain significance 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: P to P (synonymous)
Amino Acid Position: 593
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 RCV001142124 CLINVAR
dbSNP (RS) rs202049606 CLINVAR
MedGen C1849718 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 263650 CLINVAR
  605706 CLINVAR