RGD:152123488 Rat Genome Database

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Variant: RGD:152123488 -  Homo sapiens

RGD ID: 152123488
RS ID: rs1468113729
ClinVar ID: CV1664609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 183,534,826
GRCh38 1 183,565,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000433.4:c.1000+13G>A
NM_001127651.3:c.1000+13G>A
NM_001190789.2:c.757+13G>A
NM_001190794.2:c.865+13G>A
More... 		06/10/2021 intron variant likely benign CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCF2
Accession:NM_001127651
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001190789
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001190794
Location:INTRON

Gene Symbol:NCF2
Accession:NM_000433
Location:INTRON

Gene Symbol:NCF2
Accession:XM_005245207
Location:INTRON

Gene Symbol:NCF2
Accession:XM_011509580
Location:INTRON

Gene Symbol:NCF2
Accession:XM_011509581
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421222
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421231
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421238
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001410895
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002154559 CLINVAR
dbSNP (RS) rs1468113729 CLINVAR
MedGen C1856245 CLINVAR
NCBI Gene NCF2 CLINVAR
OMIM 233710 CLINVAR
  608515 CLINVAR