RGD:13612490 Rat Genome Database

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Variant: RGD:13612490 -  Homo sapiens

RGD ID: 13612490
RS ID: rs200590340
ClinVar ID: CV530378
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 88,713,504
GRCh38 16 88,647,096
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007291.1:g.8954G>A
NC_000016.10:g.88647096C>T
NC_000016.9:g.88713504C>T
LRG_52:g.8954G>A
More... 		10/28/2019 intron variant uncertain significance AllHighlyPenetrant; 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:9536098   PMID:17576681   PMID:28492532   PMID:31813112  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000642287 CLINVAR
  RCV001271488 CLINVAR
  RCV003987638 CLINVAR
dbSNP (RS) rs200590340 CLINVAR
MedGen C0018203 CLINVAR
  C1856255 CLINVAR
  CN169374 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR