RGD:11580365 Rat Genome Database

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Variant: RGD:11580365 -  Homo sapiens

RGD ID: 11580365
RS ID: rs315952
ClinVar ID: CV283875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 113,890,304
GRCh38 2 113,132,727
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
NP_001366289.1:p.Ser96=
NP_776214.1:p.Ser130=
NP_001305843.1:p.Ser96=
NP_776215.1:p.Ser96=
More... 		08/19/2021 synonymous variant benign infancy <1 / 1 000 000 AllHighlyPenetrant; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL1RN
Accession:XM_047444184
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001318914
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173841
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALADLYEEGGGGGGEGEDNADSKETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIE
PHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVS
LTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_000577
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSG
DETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444186
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_011511121
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:XM_047444185
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173843
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_173842
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHA
LFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTN
MPDEGVMVTKFYFQEDE*

Gene Symbol:IL1RN
Accession:NM_001379360
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLS
ENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000330957 CLINVAR
  RCV000454505 CLINVAR
  RCV001643028 CLINVAR
dbSNP (RS) rs315952 CLINVAR
MedGen C2748507 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR