rs1248017342 Rat Genome Database

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Variant: rs1248017342 -  Homo sapiens

RGD ID: 151858292
RS ID: rs1248017342
ClinVar ID: CV1399835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 37,268,436
GRCh38 22 36,872,394
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.596T>C
NM_013416.4:c.596T>C
LRG_159:g.16407T>C
NC_000022.10:g.37268436T>C
More... 		07/06/2022 missense variant uncertain significance 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:XM_047441384
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAPCTSKVLSESEPGLFCLRSKQRVQGEGAGSRSGDFLEPQDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAI
SANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIA
EMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFT
GNSKLELNFKAGDVIFPLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLS
STPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP*

Gene Symbol:NCF4
Accession:NM_013416
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFPLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:NM_000631
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFPLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLF
PWKLHITQKDNYRVYNTMP*

Gene Symbol:NCF4
Accession:XM_047441385
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 247
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIYYFFLNVGSPMRSKLHEAVSVLIAAVSLGDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAISANIADIEEK
RGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAY
MKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFK
AGDVIFPLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLE
LTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001923678 CLINVAR
dbSNP (RS) rs1248017342 CLINVAR
MedGen C3151409 CLINVAR
NCBI Gene NCF4 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR