RGD:11595709 Rat Genome Database

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Variant: RGD:11595709 -  Homo sapiens

RGD ID: 11595709
RS ID: rs2274065
ClinVar ID: CV278814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 183,559,704
GRCh38 1 183,590,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_88:g.5013T>G
NG_007267.1:g.5013T>G
NC_000001.11:g.183590569A>C
NC_000001.10:g.183559704A>C
More... 		09/11/2018 5 prime utr variant|intron variant benign CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCF2
Accession:XM_011509581
Location:5UTRS;EXON

Gene Symbol:NCF2
Accession:NM_001410895
Location:5UTRS;INTRON

Gene Symbol:NCF2
Accession:XM_011509580
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:NCF2
Accession:XM_047421222
Location:5UTRS;INTRON

Gene Symbol:NCF2
Accession:NM_001127651
Location:5UTRS;INTRON

Gene Symbol:NCF2
Accession:XM_047421231
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001190789
Location:INTRON

Gene Symbol:NCF2
Accession:XM_005245207
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001190794
Location:INTRON

Gene Symbol:NCF2
Accession:NM_000433
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421238
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000373385 CLINVAR
  RCV001642903 CLINVAR
dbSNP (RS) rs2274065 CLINVAR
MedGen C1856245 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC129932084 CLINVAR
  NCF2 CLINVAR
OMIM 233710 CLINVAR
  608515 CLINVAR