rs2072708 Rat Genome Database

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Variant: rs2072708 -  Homo sapiens

RGD ID: 10048999
RS ID: rs2072708
ClinVar ID: CV195362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 37,267,767
GRCh38 22 36,871,725
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_159t1:c.528+16A>G
LRG_159:g.15738A>G
NG_023400.1:g.15738A>G
NC_000022.11:g.36871725A>G
More... 		01/24/2024 intron variant benign AllHighlyPenetrant; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCF4
Accession:XM_047441384
Location:INTRON

Gene Symbol:NCF4
Accession:NM_000631
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441385
Location:INTRON

Gene Symbol:NCF4
Accession:NM_013416
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179472 CLINVAR
  RCV001511734 CLINVAR
  RCV001668344 CLINVAR
dbSNP (RS) rs2072708 CLINVAR
MedGen C3151409 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NCF4 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR