Full data view for gene NCF1

Information The variants shown are described using the NM_000265.5 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.579G>A r.579g>a p.(Trp193Ter) Maternal (confirmed) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam9 PubMed: Roos 2006, Journal: Roos 2006 - - yes Israel Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r,spl p.(Trp193Ter) Paternal (confirmed) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam4 PubMed: Roos 2006, Journal: Roos 2006 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.579g>a p.Trp193* Both (homozygous) - pathogenic (recessive) g.74197872G>A - - - NCF1_000025 - PubMed: de Boer 2002, Journal: de Boer 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD FamF PubMed: de Boer 2002, Journal: de Boer 2002 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.579g>a p.Trp193* Both (homozygous) - pathogenic (recessive) g.74197872G>A - - - NCF1_000025 - PubMed: de Boer 2002, Journal: de Boer 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD FamO PubMed: de Boer 2002, Journal: de Boer 2002 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Unknown - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 combination of alleles not mentioned PubMed: Roos 2010, Journal: Roos 2010 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Roos 2010, Journal: Roos 2010 - - - - - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat26 PubMed: Wolach 2008, Journal: Wolach 2008 2-generation family, 2 affected sibs M - Israel Jew-Azerbaijan - - - - 2 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat27 PubMed: Wolach 2008, Journal: Wolach 2008 sib M - Israel Jew-Azerbaijan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat28 PubMed: Wolach 2008, Journal: Wolach 2008 - M - Israel Jew-Georgia - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat29 PubMed: Wolach 2008, Journal: Wolach 2008 - M - Israel Jew-Georgia - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat30 PubMed: Wolach 2008, Journal: Wolach 2008 - M - Israel Jew-Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 not speficied variant at splice site intron 2 PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat31 PubMed: Wolach 2008, Journal: Wolach 2008 - F yes Israel Jew-Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat32 PubMed: Wolach 2008, Journal: Wolach 2008 - M yes Israel Jew-Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat33 PubMed: Wolach 2008, Journal: Wolach 2008 2-generation family, 2 affected sibs M - Israel Jew-Dagestan - - - - 2 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD FamPat34 PubMed: Wolach 2008, Journal: Wolach 2008 sib F - Israel Jew-Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat35 PubMed: Wolach 2008, Journal: Wolach 2008 - F - Israel Jew-Dagestan - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Israel Jew-Kavkazi - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 2 affected, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 2 affected, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 13 patients - - Israel Jew-Kavkazi - - - - 13 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 20 patients - - Turkey;Italy;Jordan;Egypt;Oman;Ethiopia;Romania;Malta - - - - - 20 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat10 PubMed: Tajik 2019 - F - Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat11 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat12 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat14 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat20 PubMed: Tajik 2019 - M no Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat30 PubMed: Tajik 2019 - M yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat31 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat32 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat33 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Tajik 2019 - - Germline - - - - - DNA SEQ - - CGD Pat36 PubMed: Tajik 2019 - F yes Iran - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Parent #2 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Beghin 2018 - - Germline - - - - - DNA SEQ - - CGD Pat12 PubMed: Beghin 2018 - F - Romania - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Wolach 2017 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 14 families, 35 affected - - Israel - - - - - 35 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamC8Pat14 PubMed: Koker 2013 family, 3 affected M - Turkey - - - - - 3 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamC8Pat15 PubMed: Koker 2013 relative F - Turkey - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Both (homozygous) - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamC8Pat16 PubMed: Koker 2013 relative F - Turkey - - - - - 1 Johan den Dunnen
+/. 7 c.579G>A r.(?) p.(Trp193Ter) Parent #1 - pathogenic (recessive) g.74197872G>A g.74783529G>A - - NCF1_000025 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD FamC9Pat17 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.579G>A r.(?) p.(Trp193*) Unknown - pathogenic g.74197872G>A - NCF1(NM_000265.7):c.579G>A (p.W193*) - NCF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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