RGD:127263981 Rat Genome Database

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Variant: RGD:127263981 -  Homo sapiens

RGD ID: 127263981
RS ID: rs144697580
ClinVar ID: CV1104330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 88,713,225
GRCh38 16 88,646,817
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.225C>T
LRG_52:g.9233C>T
NG_007291.1:g.9233C>T
NC_000016.10:g.88646817G>A
More... 		11/20/2020 synonymous 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:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLF
GPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPP
AEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV*

Gene Symbol:CYBA
Accession:XM_011522905
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLF
GPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLSQVPPARRGNCPPLAVRLLVCVRGKGAALSVYAFRVW
KWSSVSSLTDLPPAELSFRTPSCCQVLIWAVALFSGGHPHPPRLPAATHS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001428711 CLINVAR
dbSNP (RS) rs144697580 CLINVAR
MedGen C1856255 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR