rs2145696469 Rat Genome Database

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Variant: rs2145696469 -  Homo sapiens

RGD ID: 127285871
RS ID: rs2145696469
ClinVar ID: CV1150127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  NCF4-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 37,257,231
GRCh38 22 36,861,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_038202.2:p.Gln6=
NC_000022.11:g.36861189G>A
NG_023400.1:g.5202G>A
NC_000022.10:g.37257231G>A
More... 		03/12/2023 synonymous variant likely benign 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: Q to Q (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:NM_000631
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLF
PWKLHITQKDNYRVYNTMP*

Gene Symbol:NCF4
Accession:XM_047441385
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441384
Location:INTRON

Gene Symbol:NCF4-AS1
Accession:NR_147197
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001493785 CLINVAR
dbSNP (RS) rs2145696469 CLINVAR
MedGen C3151409 CLINVAR
NCBI Gene NCF4 CLINVAR
  NCF4-AS1 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR