RGD:14692946 Rat Genome Database

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Variant: RGD:14692946 -  Homo sapiens

RGD ID: 14692946
RS ID: rs1352805193
ClinVar ID: CV620710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 183,536,338
GRCh38 1 183,567,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127651.3:c.855+1G>A
LRG_88:g.28379G>A
NC_000001.11:g.183567203C>T
NM_000433.3:c.855+1G>A
More... 		07/25/2017 splice donor variant uncertain significance 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_001190794
Location:INTRON

Gene Symbol:NCF2
Accession:XM_005245207
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001127651
Location:INTRON

Gene Symbol:NCF2
Accession:NM_000433
Location:INTRON

Gene Symbol:NCF2
Accession:XM_011509580
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421222
Location:INTRON

Gene Symbol:NCF2
Accession:XM_011509581
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421238
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001410895
Location:INTRON

Gene Symbol:NCF2
Accession:XM_047421231
Location:INTRON

Gene Symbol:NCF2
Accession:NM_001190789
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8781442  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778203 CLINVAR
dbSNP (RS) rs1352805193 CLINVAR
MedGen C1856245 CLINVAR
NCBI Gene NCF2 CLINVAR
OMIM 233710 CLINVAR
  608515 CLINVAR