Full data view for gene IKBKG

Information The variants shown are described using the NM_003639.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Parent #1 - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 112 families - - - - - - - - 112 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - De novo - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 109 sporadic cases - - - - - - - - 109 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Paternal (confirmed) - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 19 families - - - - - - - - 19 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 8 families - - - - - - - - 8 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat7 PubMed: Zou 2007 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat10 PubMed: Zou 2007 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat5 PubMed: Zou 2007 2-generation family, affected mother/daughter - - China - - - - - 2 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 0.913 DNA MLPA, SEQ - - XLI Pat03f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern not informative DNA MLPA, SEQ - - XLI Pat05f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.990 DNA MLPA, SEQ - - XLI Pat06f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat08f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 94 kb deletion from IKBKG to IKBKGP PubMed: Kawai 2020 - - Germline - - - - XCI pattern 0.973 DNA MLPA, SEQ - - XLI Pat10f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.671 DNA MLPA, SEQ - - XLI Pat12f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat13f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat14f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat16f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern not informative DNA MLPA, SEQ - - XLI Pat18f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.500 DNA MLPA, SEQ - - XLI Pat19f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.584 DNA MLPA, SEQ - - XLI Pat20f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat21f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat22f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - (male) DNA MLPA, SEQ - - XLI Pat24m PubMed: Kawai 2020 - M - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.653 DNA MLPA, SEQ - - XLI Pat25f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.985 DNA MLPA, SEQ - - XLI Pat28f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.513 DNA MLPA, SEQ - - XLI Pat29f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.983 DNA MLPA, SEQ - - XLI Pat30f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 3 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-2 PubMed: Weisschuh 2024 relative F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Parent #1 ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-3 PubMed: Weisschuh 2024 relative F - Germany - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - NEMOdel4_10 400-?_*585+?del - IKBKG_000004 - - - - Germline - - - - - DNA SEQ - - IP - PubMed: Smahi 2000 - ? ? - - - - - - 1 Francesca Fusco
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 variant suggested to derive from a gene conversion event from the IKBKGP1 pseudogene (containing the same deletion, paternal allele) PubMed: Fusco 2012 - - De novo - - - - - DNA PCR - - IP FamIP-583PatIII1 PubMed: Fusco 2012 3-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - De novo - - - - - DNA SEQ - - IP - PubMed: Aradhya 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10, c.400_1260del861 - IKBKG_000004 11.7 kb microdeletion involving ex4-10 PubMed: Washington 2023 - - Germline - - - - highly skewed Xi pattern of 99:1 (like affected) mother DNA, RNA RT-PCR, SEQ, SEQ-NG - WE, WGS IP, MD, STHAG patient PubMed: Washington 2023 2-generation family, 1 affected, unaffected heterozygous parents F - United States - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat2 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat3 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat4 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat5 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat8 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat10 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. 3i_10+ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del - - - IKBKG_000004 - PubMed: Fryssira 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - IP Pat11 PubMed: Fryssira 2010 - F - Greece - - - - - 1 Johan den Dunnen
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