Full data view for gene USB1

Information The variants shown are described using the NM_024598.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 2 c.176_177delGG - r.? p.(Gly59Alafs*2) Both (homozygous) g.58036458_58036459del - - - USB1_000009 - PubMed: Walne et al. 2010 - rs759761915 Germline - - - 0 - DNA PCR, SEQ peripheral blood - PN - PubMed: Walne 2010 - F no ? (unknown) ? ? 0 - - 1 Elisa Adele Colombo
+/+ 2 c.179delC - r.(?) p.(Pro60Leufs*55) Paternal (inferred) g.58036463delC g.58002559delC - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Colombo 2012 - F ? (France) African >37y 0 - - 3 Ludovica Volpi
+/+ 2 c.179delC - r.(?) p.(Pro60Leufs*55) Maternal (inferred) g.58036463delC g.58002559delC - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Colombo 2012 - F ? (France) African >37y 0 - - 3 Ludovica Volpi
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55) Both (homozygous) g.58036463delC g.58002559delC - - USB1_000004 - PubMed: Tanaka et al. 2010, PubMed: Walne et al. 2010 - rs786205051 Germline yes - - 0 - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai et al. 2008, PubMed: Tanaka et al. 2010, PubMed: Walne et al 2010 the patient has an affected sister and an affected Brother. F yes Morocco Moroccan >08y 0 - - 1 Elisa Adele Colombo
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55) Both (homozygous) g.58036463delC g.58002559delC - - USB1_000004 - PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 - rs786205051 Germline yes - - 0 - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai et al. 2008, PubMed: Tanaka et al. 2010, PubMed: Walne et al. 2010 this patient has an affected sister (LOVD ID 59219) and an affected brother F yes Morocco Moroccan - 0 - - 1 Elisa Adele Colombo
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55) Both (homozygous) g.58036463delC g.58002559delC - - USB1_000004 - PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 - rs786205051 Germline yes - - 0 - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai et al. 2008,PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 the patient has two elder affected sisters (LOVD ID 59219 and 59220) M yes Morocco Moroccan - 0 - - 1 Elisa Adele Colombo
+/+ 2 c.232C>T - r.232c>u p.Arg78* Paternal (confirmed) g.58036516C>T g.58002612C>T - - USB1_000008 - PubMed: Colombo et al.2012 Colombo ASHG 2010 meeting - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy Caucasian >22y 0 - - 1 Ludovica Volpi
+/+ 2 c.232C>T - r.232c>u p.Arg78* Maternal (confirmed) g.58036516C>T g.58002612C>T - - USB1_000008 - Colombo ASHG 2010 meeting - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy Caucasian >22y 0 - - 1 Ludovica Volpi
+?/+? 2 c.243G>A - r.? p.(Trp81*) Both (homozygous) g.58036527G>A g.58002623G>A - - USB1_000010 ClinVar-156347 PubMed: Arnold et al. 2010 - rs137853973 Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Arnold et al. 2010 The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins. M ? - (not applicable) european mediterranean area in Montenegro >04y 0 - - 1 Elisa Adele Colombo
+?/+? 2 c.243G>A - r.? p.(Trp81*) Maternal (confirmed) g.58036527G>A g.58002623G>A - - USB1_000010 - PubMed: Piard et al. 2012 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Piard et al. 2012 - F no ? (unknown) - >04y 0 - - 1 Elisa Adele Colombo
+?/+? 2 c.258T>A - r.? p.(Tyr86*) Both (homozygous) g.58036542T>A g.58002638T>A - - USB1_000011 - PMID: Walne et al. 2010: 20817924 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Walne 2010 affected sibling is reported ? yes ? (unknown) - - 0 - - 1 Elisa Adele Colombo
+/+ 2i c.265+2T>G - r.spl p.(Tyr89Trpfs*3) Paternal (inferred) g.58036551T>G g.58002647T>G - - USB1_000005 - PubMed: Colombo et al. 2012 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey Caucasian >23y 0 - - 1 Ludovica Volpi
+/+ 2i c.265+2T>G - r.spl p.(Tyr89Trpfs*3) Maternal (inferred) g.58036551T>G g.58002647T>G - - USB1_000005 - - - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey Caucasian >23y 0 - - 1 Ludovica Volpi
+?/+? 2i c.266-1G>A - r.spl p.(Glu90Serfs*8) Both (homozygous) g.58043832G>A g.58009928G>A - - USB1_000012 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio et al. 2011; PubMed: Chantorn et al. 2012 patient has an affected brother M no India - >05y 0 - - 1 Elisa Adele Colombo
+?/+? 3 c.267T>A - r.? p.(Tyr89*) Paternal (confirmed) g.58043834T>A g.58009930T>A - - USB1_000013 - PubMed: Piard et al. 2012 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Piard et al. 2012 - F no ? (unknown) - >04y 0 - - 1 Elisa Adele Colombo
./. 3 c.334dupC - r.(?) p.(Arg112Profs*63) Both (homozygous) g.58043901dupC g.58009997dupC - - USB1_000022 - PubMed: Suter 2016 - - Germline/De novo (untested) - - - 0 - DNA PCR, SEQ - - PN - PubMed: Suter et al.2016 - ? ? ? (unknown) - - 0 - - 1 Elisa Adele Colombo
+?/+? 3 c.415C>T - r.? p.(Gln139*) Unknown g.58043982C>T g.58010078C>T - - USB1_000014 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio et al. 2011 - F no ? (unknown) 6.25% Cherokee, 93,75% Caucasian >07y 0 - - 1 Elisa Adele Colombo
+?/+? 3i c.450-2A>G - r.? p.? Both (homozygous) g.58048175A>G g.58014271A>G - - USB1_000016 - - - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne et al. 2010 - M yes ? (unknown) - - 0 - - 1 Elisa Adele Colombo
+?/+? 4 c.489_492del4 - r.? p.(Asn163Lysfs*101) Unknown g.58048216_58048219del4 g.58014312_58014315del4 - - USB1_000017 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Clericuzio et al. 2011 PubMed: Wang et al. 2003 She has an affected fraternal twin Brother. F no Scotland - >04y 0 - - 1 Elisa Adele Colombo
+?/+? 4 c.496delA - r.? p.(Thr167Profs*98) Both (homozygous) g.58048226delA - - - USB1_000019 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Clericuzio et al. 2011 - M ? United States Navajo - 0 - - 1 Elisa Adele Colombo
+/+ 4 c.502A>G - r.450_503del p.Phe151_Arg168del Maternal (confirmed) g.58048229A>G g.58014325A>G - - USB1_000003 reference sequence article is NM_024598.2; variant causes exon 4 skipping PubMed: Volpi 2010, OMIM:var0003 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy Caucasian >22y 0 - - 2 Johan den Dunnen
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61 Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy Caucasian >25y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >20y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >18y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61 Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy Caucasian >25y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >20y 0 - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy Caucasian >18y 0 - - 2 Ludovica Volpi
+?/+? 4i c.504-2A>C - r.spl? p.? Both (homozygous) g.58051236A>C g.58017332A>C - - USB1_000001 - PubMed: Farruggia et al. 2014 - - Germline yes - - 0 - DNA PCR, SEQ blood - PN - PubMed: Farruggia et al. 2014 - F no Italy - >03y 0 - - 1 Elisa Adele Colombo
+?/+? 5 c.518T>G - r.(?) p.(Leu173Arg) Both (homozygous) g.58051252T>G g.58017348T>G - - USB1_000024 - PubMed: Aglaguel 2017 - - Germline - - - 0 - DNA PCR, SEQ white blood cells - PN Patient 3, family 2 PubMed: Aglaguel 2017 - F yes Morocco - >13y 0 - - 1 Elisa Adele Colombo
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Paternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey Caucasian >11y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Paternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting PubMed: Colombo 2012, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey Caucasian >18y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Maternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey Caucasian >11y 0 - - 1 Ludovica Volpi
+/+ 5 c.531delA - r.531delA p.His179Metfs*86 Maternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - PubMed: Colombo et al. 2012 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 his mother had a miscarriage and an elder affected sister (not tested) died during infancy M yes Turkey Caucasian >18y 0 - - 1 Ludovica Volpi
+?/+? 5 c.541C>T - r.? p.(Gln181*) Both (homozygous) g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Walne et al. 2010 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne et al. 2010 - F no ? (unknown) - - 0 - - 1 Elisa Adele Colombo
+?/+? 5 c.541C>T - r.? p.(Gln181*) Both (homozygous) g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Clericuzio et al. 2011 - F ? (England) Turkish-British >04y 0 - patient received GCSF 1 Elisa Adele Colombo
+?/+? 5i c.609+1G>A - r.spl? p.? Both (homozygous) g.58051344G>A g.58017440G>A - - USB1_000023 - PubMed: Aglaguel 2017 - - Germline yes - - 0 - DNA PCR, SEQ white blood cells - PN - PubMed: Aglaguel 2017 - F yes Morocco - >11y 0 - - 2 Elisa Adele Colombo
+?/+? 6 c.623A>G - r.? p.(His208Arg) Both (homozygous) g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne et al. 2016 - M yes Afghanistan - - 0 - - 1 Elisa Adele Colombo
+?/+? 6 c.623A>G - r.? p.(His208Arg) Both (homozygous) g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Walne et al. 2016 - F no Afghanistan - - 0 - - 1 Elisa Adele Colombo
+?/+? 6 c.673C>T - r.? p.(Gln225*) Unknown g.58052939C>T g.58019035C>T - - USB1_000015 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - DNA PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio et al. 2011 - F no ? (unknown) 6.25% Cherokee, 93,75% Caucasian >07y 0 - - 1 Elisa Adele Colombo
+/+ 6_6i c.683_693+1del - r.610_693del p.Asp204_Gln231del Paternal (confirmed) g.58052949_58052960del g.58019045_58019056del NM_024598.2:c.666_676+1 del12 (D204_Q231del) - USB1_000002 - PubMed: Volpi 2010 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy Caucasian >22y 0 - - 2 Johan den Dunnen
+?/+? 6i c.693+1G>T - r.610_693del p.(Asp204_Gln231del) Unknown g.58052960G>T g.58019056G>T - - USB1_000018 - - - - Germline yes - - 0 - DNA PCR, SEQ - - PN - PubMed: Clericuzio et al. 2011 PubMed: Wang et al. 2003 She has an affected fraternal twin Brother. F no Scotland - >04y 0 - - 1 Elisa Adele Colombo
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