rs749287293 Rat Genome Database

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Variant: rs749287293 -  Homo sapiens

RGD ID: 151869990
RS ID: rs749287293
ClinVar ID: CV1454086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 37,271,849
GRCh38 22 36,875,807
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.36875807C>T
NC_000022.10:g.37271849C>T
NP_038202.2:p.Ala261Val
LRG_159t1:c.782C>T
More... 		09/21/2021 intron variant uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCF4
Accession:NM_013416
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGVCPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:NM_000631
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441384
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441385
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001925076 CLINVAR
  RCV004827844 CLINVAR
dbSNP (RS) rs749287293 CLINVAR
MedGen C3151409 CLINVAR
  CN169374 CLINVAR
NCBI Gene NCF4 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR