RGD:8572455 Rat Genome Database

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Variant: RGD:8572455 -  Homo sapiens

RGD ID: 8572455
RS ID: rs184758350
ClinVar ID: CV59853
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL17RD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 57,144,258
GRCh38 3 57,110,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.57110230T>G
NC_000003.11:g.57144258T>G
NP_060033.3:p.Lys131Thr
NG_047158.1:g.65088A>C
More... 		05/04/2022 5 prime utr variant|missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IL17RD
Accession:XM_047448369
Location:5UTRS;EXON

Gene Symbol:IL17RD
Accession:XM_011533849
Location:5UTRS;EXON

Gene Symbol:IL17RD
Accession:NM_001318864
Location:5UTRS;EXON

Gene Symbol:IL17RD
Accession:XM_005265238
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAARPRLCVANEGVGPASRNSGLYNITFKYDNCTTYLNPVGKHVIADAQNITISQYACHDQVAVTILWSPGALGIEFL
KGFRVILEELKSEGRQCQQLILTDPKQLNSSFKRTGMESQPFLNMKFETDYFVKVVPFPSIKNESNYHPFFFRTRACDLL
LQPDNLACKPFWKPRNLNISQHGSDMQVSFDHAPHNFGFRFFYLHYKLKHEGPFKRKTCKQEQTTETTSCLLQNVSPGDY
IIELVDDTNTTRKVMHYALKPVHSPWAGPIRAVAITVPLVVISAFATLFTVMCRKKQQENIYSHLDEESSESSTYTAALP
RERLRPRPKVFLCYSSKDGQNHMNVVQCFAYFLQDFCGCEVALDLWEDFSLCREGQREWVIQKIHESQFIIVVCSKGMKY
FVDKKNYKHKGGGRGSGKGELFLVAVSAIAEKLRQAKQSSSAALSKFIAVYFDYSCEGDVPGILDLSTKYRLMDNLPQLC
SHLHSRDHGLQEPGQHTRQGSRRNYFRSKSGRSLYVAICNMHQFIDEEPDWFEKQFVPFHPPPLRYREPVLEKFDSGLVL
NDVMCKPGPESDFCLKVEAAVLGATGPADSQHESQHGGLDQDGEARPALDGSAALQPLLHTVKAGSPSDMPRDSGIYDSS
VPSSELSLPLMEGLSTDQTETSSLTESVSSSSGLGEEEPPALPSKLLSSGSCKADLGCRSYTDELHAVAPL*

Gene Symbol:IL17RD
Accession:NM_017563
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWLQLCSVFFTVNACLNGSQLAVAAGGSGRARGADTCGWRGVGPASRNSGLYNITFKYDNCTTYLNPVGKHVIADAQN
ITISQYACHDQVAVTILWSPGALGIEFLKGFRVILEELKSEGRQCQQLILTDPKQLNSSFKRTGMESQPFLNMKFETDYF
VKVVPFPSIKNESNYHPFFFRTRACDLLLQPDNLACKPFWKPRNLNISQHGSDMQVSFDHAPHNFGFRFFYLHYKLKHEG
PFKRKTCKQEQTTETTSCLLQNVSPGDYIIELVDDTNTTRKVMHYALKPVHSPWAGPIRAVAITVPLVVISAFATLFTVM
CRKKQQENIYSHLDEESSESSTYTAALPRERLRPRPKVFLCYSSKDGQNHMNVVQCFAYFLQDFCGCEVALDLWEDFSLC
REGQREWVIQKIHESQFIIVVCSKGMKYFVDKKNYKHKGGGRGSGKGELFLVAVSAIAEKLRQAKQSSSAALSKFIAVYF
DYSCEGDVPGILDLSTKYRLMDNLPQLCSHLHSRDHGLQEPGQHTRQGSRRNYFRSKSGRSLYVAICNMHQFIDEEPDWF
EKQFVPFHPPPLRYREPVLEKFDSGLVLNDVMCKPGPESDFCLKVEAAVLGATGPADSQHESQHGGLDQDGEARPALDGS
AALQPLLHTVKAGSPSDMPRDSGIYDSSVPSSELSLPLMEGLSTDQTETSSLTESVSSSSGLGEEEPPALPSKLLSSGSC
KADLGCRSYTDELHAVAPL*
Variant Samples
Additional References at PubMed
PMID:23643382   PMID:25636053   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000043609 CLINVAR
  RCV000156943 CLINVAR
  RCV000442073 CLINVAR
  RCV001818215 CLINVAR
dbSNP (RS) rs184758350 CLINVAR
MedGen C0034012 CLINVAR
  C3661900 CLINVAR
  C4016983 CLINVAR
  CN169374 CLINVAR
NCBI Gene IL17RD CLINVAR
OMIM 606807 CLINVAR
OMIM Allele 606807.0001 CLINVAR