RGD:155968369 Rat Genome Database

Variant: RGD:155968369 - Homo sapiens

RGD ID:

155968369

ClinVar ID:

CV2066176

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NCF2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	183,543,729
GRCh38	1	183,574,594

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_88t1:c.394G>C NM_001190789.2:c.366+3005G>C NM_001190794.2:c.367-1302G>C NM_000433.4:c.394G>C More...	06/22/2022	intron variant	uncertain significance	CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY

Disease Annotations Click to see Annotation Detail View

autosomal recessive chronic granulomatous disease 2 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NCF2
Accession:	NM_001127651
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAP PSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSN ELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV*

Gene Symbol:	NCF2
Accession:	NM_000433
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAP PSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSN ELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV*

Gene Symbol:	NCF2
Accession:	XM_005245207
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDN WATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKV HYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFP DEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCAT TDLESTRREV*

Gene Symbol:	NCF2
Accession:	XM_011509580
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAP PSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSN ELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV*

Gene Symbol:	NCF2
Accession:	XM_011509581
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAP PSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSN ELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV*

Gene Symbol:	NCF2
Accession:	XM_047421222
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAP PSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSN ELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDN WATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKV HYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFP DEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCAT TDLESTRREV*

Gene Symbol:	NCF2
Accession:	XM_047421231
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRRG LFPATTLNQLSCGSTLSSSPRRKALRSPTSQLLLVPKPLEDPSCHQARNKKKSLRK*

Gene Symbol:	NCF2
Accession:	XM_047421238
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFSHL IHPTPAQPWVLAKMTQPGTFLLRAEGRARIVSPHYLVLWGFCFILAPLHIWL*

Gene Symbol:	NCF2
Accession:	NM_001410895
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGML YYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYPKKEEWKKAEEQLALATSMKSEPRHSKID KAMECVWVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDN WATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKV HYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFP DEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCAT TDLESTRREV*

Gene Symbol:	NCF2
Accession:	NM_001190789
Location:	INTRON

Gene Symbol:	NCF2
Accession:	NM_001190794
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002841959	CLINVAR
MedGen	C1856245	CLINVAR
NCBI Gene	NCF2	CLINVAR
OMIM	233710	CLINVAR
	608515	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:155968369 - Homo sapiens

Imported Disease Annotations - ClinVar