RGD:127256421 Rat Genome Database

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Variant: RGD:127256421 -  Homo sapiens

RGD ID: 127256421
RS ID: rs1445023836
ClinVar ID: CV1056353
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,713,584
GRCh38 16 88,647,176
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000101.4:c.129-1G>T
LRG_52:g.8874G>T
NG_007291.1:g.8874G>T
NC_000016.10:g.88647176C>A
More... 		03/14/2020 splice acceptor variant likely pathogenic CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYBA
Accession:XM_011522905
Location:INTRON

Gene Symbol:CYBA
Accession:NM_000101
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10910929   PMID:16199547   PMID:20167518   PMID:22876374   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001379559 CLINVAR
dbSNP (RS) rs1445023836 CLINVAR
MedGen C1856255 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR