RGD:26890517 Rat Genome Database

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Variant: RGD:26890517 -  Homo sapiens

RGD ID: 26890517
RS ID: rs151344455
ClinVar ID: CV850017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 37,641,353
GRCh38 X 37,782,100
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_53t1:c.58G>A
NG_009065.1:g.7084G>A
NM_000397.3:c.58G>A
LRG_53:g.7084G>A
More... 		08/31/2022 missense variant pathogenic|likely pathogenic CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYBB
Accession:NM_000397
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWAVNEGLSIFVILVWLRLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLR
GSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRI
KNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKME
VGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFS
YEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRG
VHFIFNKENF*

Gene Symbol:CYBB
Accession:XM_047441855
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9585602   PMID:19410294   PMID:20729109   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001067879 CLINVAR
dbSNP (RS) rs151344455 CLINVAR
MedGen C1844376 CLINVAR
NCBI Gene CYBB CLINVAR
OMIM 300481 CLINVAR
  306400 CLINVAR