rs2145702819 Rat Genome Database

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Variant: rs2145702819 -  Homo sapiens

RGD ID: 151763180
RS ID: rs2145702819
ClinVar ID: CV1384334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  NCF4-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 37,260,148
GRCh38 22 36,864,106
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.94A>G
NM_013416.4:c.94A>G
LRG_159:g.8119A>G
NG_023400.1:g.8119A>G
More... 		11/16/2021 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: K to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAPCTSKVLSESEPGLFCLRSKQRVQGEGAGSRSGDFLEPQDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAI
SANIADIEEERGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIA
EMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFT
GNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLS
STPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP*

Gene Symbol:NCF4
Accession:NM_013416
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEERGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPGWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:NM_000631
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEERGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLF
PWKLHITQKDNYRVYNTMP*

Gene Symbol:NCF4
Accession:XM_047441385
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIYYFFLNVGSPMRSKLHEAVSVLIAAVSLGDDGSGRVLSSTEHLLYAGLCSGHWDVGDFEQLPDDVAISANIADIEEE
RGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAY
MKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFK
AGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLE
LTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP*

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 RCV001987513 CLINVAR
dbSNP (RS) rs2145702819 CLINVAR
MedGen C3151409 CLINVAR
NCBI Gene NCF4 CLINVAR
  NCF4-AS1 CLINVAR
OMIM 601488 CLINVAR
  613960 CLINVAR