RGD:13819466 Rat Genome Database

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Variant: RGD:13819466 -  Homo sapiens

RGD ID: 13819466
RS ID: rs1453476284
ClinVar ID: CV558705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 113,890,364
GRCh38 2 113,132,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173841.2:c.459G>A
NM_173842.3:c.450G>A
NP_001305843.1:p.Met116Ile
NP_776215.1:p.Met116Ile
More... 		06/04/2018 missense variant uncertain significance CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL1RN
Accession:XM_011511121
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444186
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173841
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALADLYEEGGGGGGEGEDNADSKETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIE
PHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVS
LTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444184
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_000577
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSG
DETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001379360
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173842
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHA
LFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTN
MPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001318914
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173843
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444185
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAIEADQPVSLTNMPDEGVMVTKFYFQEDE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694345 CLINVAR
dbSNP (RS) rs1453476284 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR