RGD:15132304 Rat Genome Database

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Variant: RGD:15132304 -  Homo sapiens

RGD ID: 15132304
RS ID: rs748998742
ClinVar ID: CV776402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,713,154
GRCh38 16 88,646,746
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.287+9C>A
NC_000016.10:g.88646746G>T
NC_000016.9:g.88713154G>T
NM_000101.3:c.287+9C>A
More... 		07/31/2018 intron variant likely benign 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:NM_000101
Location:INTRON

Gene Symbol:CYBA
Accession:XM_011522905
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470219 CLINVAR
dbSNP (RS) rs748998742 CLINVAR
MedGen C1856255 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR