RGD:127279741 Rat Genome Database

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Variant: RGD:127279741 -  Homo sapiens

RGD ID: 127279741
RS ID: rs1277646913
ClinVar ID: CV1104334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,714,479
GRCh38 16 88,648,071
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.102C>G
LRG_52:g.7979C>G
NG_007291.1:g.7979C>G
NC_000016.10:g.88648071G>C
More... 		01/05/2020 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:XM_011522905
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLF
GPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLSQVPPARRGNCPPLAVRLLVCVRGKGAALSVYAFRVW
KWSSVSSLTDLPPAELSFRTPSCCQVLIWAVALFSGGHPHPPRLPAATHS*

Gene Symbol:CYBA
Accession:NM_000101
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLF
GPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPP
AEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001445967 CLINVAR
dbSNP (RS) rs1277646913 CLINVAR
MedGen C1856255 CLINVAR
NCBI Gene CYBA CLINVAR
OMIM 233690 CLINVAR
  608508 CLINVAR