rs28368114 Rat Genome Database

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Variant: rs28368114 -  Homo sapiens

RGD ID: 13624661
RS ID: rs28368114
ClinVar ID: CV530453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IRF8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 85,952,280
GRCh38 16 85,918,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_294t1:c.859G>A
LRG_294:g.24507G>A
NG_029333.1:g.24507G>A
NC_000016.10:g.85918674G>A
More... 		01/03/2022 missense variant uncertain significance Immunodeficiency 32a; IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; IRF8 DEFICIENCY, AUTOSOMAL DOMINANT; IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90002393 Monocyte count 408,112 British individuals A 0.00167499999999998 5E-12 11.301029995663981 Affymetrix [93095623] (imputed) 0.19318794 monocyte count (EFO:0005091)
 PMID:32888494
GCST90025950 Monocyte count 443,529 European ancestry individuals ? NR 6E-20 19.221848749616356 NR [9800000] (imputed) 0.210101 monocyte count (EFO:0005091)
 PMID:34226706

Variant Details
Variant Transcripts
Gene Symbol:IRF8
Accession:NM_001363908
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSR
QGMFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKL
ILVQIEQLYVRQLAEEAGKSCGAGSVMQAPEEPPPDQVFRMFPDICASHQRSFFRENQQITV*

Gene Symbol:IRF8
Accession:XM_047434052
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGVPESLNLMCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAWAVFKGKFKEG
DKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEP
SVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLS
LSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGMFVKRLCQGRVFCSGNAVVCKGRP
NKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSV
MQAPEEPPPDQVFRMFPDICASHQRSFFRENQQITV*

Gene Symbol:IRF8
Accession:NM_001363907
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGVPESLNLMCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAWAVFKGKFKEG
DKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEP
SVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLS
LSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGMFVKRLCQGRVFCSGNAVVCKGRP
NKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSV
MQAPEEPPPDQVFRMFPDICASHQRSFFRENQQITV*

Gene Symbol:IRF8
Accession:NM_002163
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAWAVFKGKFKEGDKAEPATWKT
RLRCALNKSPDFEEVTDRSQLDISEPYKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIK
RSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTK
LYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGMFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQ
VFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQLAEEAGKSCGAGSVMQAPEEPPPD
QVFRMFPDICASHQRSFFRENQQITV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000652525 CLINVAR
dbSNP (RS) rs28368114 CLINVAR
GWAS Catalog GCST90002393 GWAS Catalog
MedGen C4016741 CLINVAR
NCBI Gene IRF8 CLINVAR
OMIM 226990 CLINVAR
  601565 CLINVAR
  614893 CLINVAR