rs141914454 Rat Genome Database

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Variant: rs141914454 -  Homo sapiens

RGD ID: 152164319
RS ID: rs141914454
ClinVar ID: CV1560605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 37,271,863
GRCh38 22 36,875,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000631.5:c.758+38C>T
NM_013416.4:c.796C>T
LRG_159:g.19834C>T
NG_023400.1:g.19834C>T
More... 		11/28/2023 intron 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: L to L (synonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:XM_047441385
Location:INTRON

Gene Symbol:NCF4
Accession:NM_000631
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441384
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002160222 CLINVAR
dbSNP (RS) rs141914454 CLINVAR
MedGen C3151409 CLINVAR
NCBI Gene NCF4 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR