RGD:11637901 Rat Genome Database

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Variant: RGD:11637901 -  Homo sapiens

RGD ID: 11637901
RS ID: rs377055239
ClinVar ID: CV270031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,713,250
GRCh38 16 88,646,842
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_52:g.9208C>A
NG_007291.1:g.9208C>A
NC_000016.10:g.88646842G>T
NC_000016.9:g.88713250G>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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; none provided
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000294209 CLINVAR
  RCV001087533 CLINVAR
  RCV002252083 CLINVAR
  RCV003947903 CLINVAR
dbSNP (RS) rs377055239 CLINVAR
MedGen C1856255 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR