Full data view for gene USB1

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

57 entries on 1 page. Showing entries 1 - 57.
Legend   How to query  

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.-3456C>T r.(?) p.(=) Unknown - VUS g.58031932C>T g.57998028C>T ZNF319(NM_020807.2):c.238G>A (p.V80M) - ZNF319_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3340G>A r.(?) p.(=) Unknown - VUS g.58032048G>A - ZNF319(NM_020807.2):c.122C>T (p.A41V) - ZNF319_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.98+6G>T r.(=) p.(=) Unknown - likely benign g.58035491G>T - USB1(NM_001204911.1):c.98+6G>T - ZNF319_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106A>G r.(?) p.(Ser36Gly) Unknown - VUS g.58036390A>G - USB1(NM_024598.4):c.106A>G (p.(Ser36Gly)) - ZNF319_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A r.(?) p.(Pro54=) Unknown - likely benign g.58036446G>A g.58002542G>A USB1(NM_001204911.1):c.162G>A (p.P54=) - ZNF319_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.176_177del r.(?) p.(Gly59Alafs*2) Both (homozygous) - likely pathogenic g.58036460_58036461del g.58002556_58002557del - - USB1_000009 - PubMed: Walne et al. 2010 - rs759761915 Germline - - - - - DNA PCR, SEQ peripheral blood - PN - PubMed: Walne 2010 - F no - ? ? - - - 1 Elisa Adele Colombo
+/+ 2 c.179del r.(?) p.(Pro60Leufs*55) Paternal (inferred) - pathogenic g.58036463del g.58002559del - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Colombo 2012 - F ? (France) African >37y - - - 3 Ludovica Volpi
+/+ 2 c.179del r.(?) p.(Pro60Leufs*55) Maternal (inferred) - pathogenic g.58036463del g.58002559del - - USB1_000004 - Colombo 2010 ASHG, PubMed: Tanaka 2010; PubMed: Walne 2010 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Colombo 2012 - F ? (France) African >37y - - - 3 Ludovica Volpi
+?/+? 2 c.179del r.(?) p.(Pro60Leufs*55) Both (homozygous) - likely pathogenic g.58036463del g.58002559del - - USB1_000004 - PubMed: Tanaka et al. 2010, PubMed: Walne et al. 2010 - rs786205051 Germline yes - - - - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai 2008, PubMed: Tanaka 2010, PubMed: Walne et al 2010 the patient has an affected sister and an affected Brother. F yes Morocco Moroccan >08y - - - 1 Elisa Adele Colombo
+?/+? 2 c.179del r.(?) p.(Pro60Leufs*55) Both (homozygous) - likely pathogenic g.58036463del g.58002559del - - USB1_000004 - PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 - rs786205051 Germline yes - - - - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai 2008, PubMed: Tanaka 2010, PubMed: Walne 2010 this patient has an affected sister (LOVD ID 59219) and an affected brother F yes Morocco Moroccan - - - - 1 Elisa Adele Colombo
+?/+? 2 c.179del r.(?) p.(Pro60Leufs*55) Both (homozygous) - likely pathogenic g.58036463del g.58002559del - - USB1_000004 - PubMed: Tanaka et al. 2010,PubMed: Walne et al. 2010 - rs786205051 Germline yes - - - - DNA arraySNP, PCR, SEQ - - PN - PubMed: Mostefai 2008,PubMed: Tanaka 2010,PubMed: Walne 2010 the patient has two elder affected sisters (LOVD ID 59219 and 59220) M yes Morocco Moroccan - - - - 1 Elisa Adele Colombo
+/+ 2 c.232C>T r.232c>u p.Arg78* Paternal (confirmed) - pathogenic g.58036516C>T g.58002612C>T - - USB1_000008 - PubMed: Colombo et al.2012 Colombo ASHG 2010 meeting - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy white >22y - - - 1 Ludovica Volpi
+/+ 2 c.232C>T r.232c>u p.Arg78* Maternal (confirmed) - pathogenic g.58036516C>T g.58002612C>T - - USB1_000008 - Colombo ASHG 2010 meeting - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012, PubMed: Migliaccio 1999 - F no Italy white >22y - - - 1 Ludovica Volpi
+/. - c.232C>T r.(?) p.(Arg78Ter) Unknown - pathogenic g.58036516C>T g.58002612C>T USB1(NM_001204911.2):c.232C>T (p.R78*) - USB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>A r.(?) p.(Arg78Gln) Unknown - VUS g.58036517G>A - USB1(NM_024598.4):c.233G>A (p.(Arg78Gln)) - ZNF319_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.243G>A r.(?) p.(Trp81*) Both (homozygous) - likely pathogenic g.58036527G>A g.58002623G>A - - USB1_000010 {CV:156347} PubMed: Arnold et al. 2010 - rs137853973 Germline yes - - - - DNA PCR, SEQ blood - PN - PubMed: Arnold 2010 The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins. M ? - european mediterranean area in Montenegro >04y - - - 1 Elisa Adele Colombo
+?/+? 2 c.243G>A r.(?) p.(Trp81*) Maternal (confirmed) - likely pathogenic g.58036527G>A g.58002623G>A - - USB1_000010 - PubMed: Piard et al. 2012 - - Germline yes - - - - DNA PCR, SEQ blood - PN - PubMed: Piard 2012 - F no - - >04y - - - 1 Elisa Adele Colombo
+/. - c.243G>A r.(?) p.(Trp81Ter) Unknown - pathogenic g.58036527G>A g.58002623G>A - - USB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.258T>A r.(?) p.(Tyr86*) Both (homozygous) - likely pathogenic g.58036542T>A g.58002638T>A - - USB1_000011 - PMID: Walne et al. 2010: 20817924 - - Germline yes - - - - DNA PCR, SEQ blood - PN - PubMed: Walne 2010 affected sibling is reported ? yes - - - - - - 1 Elisa Adele Colombo
+/+ 2i c.265+2T>G r.spl p.(Tyr89Trpfs*3) Paternal (inferred) - pathogenic g.58036551T>G g.58002647T>G - - USB1_000005 - PubMed: Colombo et al. 2012 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey white >23y - - - 1 Ludovica Volpi
+/+ 2i c.265+2T>G r.spl p.(Tyr89Trpfs*3) Maternal (inferred) - pathogenic g.58036551T>G g.58002647T>G - - USB1_000005 - - - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012; PubMed: Altunay 2010 - M yes Turkey white >23y - - - 1 Ludovica Volpi
+?/+? 2i c.266-1G>A r.spl p.(Glu90Serfs*8) Both (homozygous) - likely pathogenic g.58043832G>A g.58009928G>A - - USB1_000012 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio 2011; PubMed: Chantorn 2012 patient has an affected brother M no India - >05y - - - 1 Elisa Adele Colombo
+?/+? 3 c.267T>A r.(?) p.(Tyr89*) Paternal (confirmed) - likely pathogenic g.58043834T>A g.58009930T>A - - USB1_000013 - PubMed: Piard et al. 2012 - - Germline yes - - - - DNA PCR, SEQ blood - PN - PubMed: Piard 2012 - F no - - >04y - - - 1 Elisa Adele Colombo
-?/. - c.327T>C r.(?) p.(Tyr109=) Unknown - likely benign g.58043894T>C - USB1(NM_001204911.2):c.327T>C (p.Y109=) - ZNF319_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 3 c.334dup r.(?) p.(Arg112Profs*63) Both (homozygous) - likely pathogenic g.58043901dup g.58009997dup - - USB1_000022 - PubMed: Suter 2016 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - PN - PubMed: Suter et al.2016 - ? ? - - - - - - 1 Elisa Adele Colombo
-?/. - c.344G>A r.(?) p.(Arg115Lys) Unknown - likely benign g.58043911G>A - USB1(NM_024598.3):c.344G>A (p.R115K) - ZNF319_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.415C>T r.(?) p.(Gln139*) Unknown - likely pathogenic g.58043982C>T g.58010078C>T - - USB1_000014 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio 2011 - F no - 6.25% Cherokee, 93,75% white >07y - - - 1 Elisa Adele Colombo
-?/. - c.449+956C>T r.(=) p.(=) Unknown - likely benign g.58044972C>T g.58011068C>T USB1(NM_001204911.1):c.500C>T (p.(Thr167Ile)) - ZNF319_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3i c.450-2A>G r.spl? p.? Both (homozygous) - likely pathogenic g.58048175A>G g.58014271A>G - - USB1_000016 - - - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Walne 2010 - M yes - - - - - - 1 Elisa Adele Colombo
+?/+? 4 c.489_492del r.(?) p.(Asn163Lysfs*101) Unknown - likely pathogenic g.58048216_58048219del g.58014312_58014315del - - USB1_000017 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Clericuzio 2011 PubMed: Wang 2003 She has an affected fraternal twin Brother. F no Scotland - >04y - - - 1 Elisa Adele Colombo
+?/+? 4 c.499del r.(?) p.(Thr167Profs*98) Both (homozygous) - likely pathogenic g.58048226del g.58014322del - - USB1_000019 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Clericuzio 2011 - M ? United States Navajo - - - - 1 Elisa Adele Colombo
+/+ 4 c.502A>G r.450_503del p.Phe151_Arg168del Maternal (confirmed) - pathogenic 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 - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy white >22y - - - 2 Johan den Dunnen
+/+ 4i c.504-2A>C r.504_609del p.Thr169Ilefs*61 Paternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy white >25y - - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >20y - - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C r.(?) p.(Thr169Ilefs*61) Paternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >18y - - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C r.504_609del p.Thr169Ilefs*61 Maternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ-NG-I - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - M yes Italy white >25y - - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >20y - - - 2 Ludovica Volpi
+/+ 4i c.504-2A>C r.(?) p.(Thr169Ilefs*61) Maternal (confirmed) - pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Volpi 2010, PubMed: Concolino 2010 - F yes Italy white >18y - - - 2 Ludovica Volpi
+?/+? 4i c.504-2A>C r.spl? p.? Both (homozygous) - likely pathogenic g.58051236A>C g.58017332A>C - - USB1_000001 - PubMed: Farruggia et al. 2014 - - Germline yes - - - - DNA PCR, SEQ blood - PN - PubMed: Farruggia 2014 - F no Italy - >03y - - - 1 Elisa Adele Colombo
?/. - c.512T>C r.(?) p.(Ile171Thr) Unknown - VUS g.58051246T>C g.58017342T>C USB1(NM_024598.3):c.512T>C (p.I171T) - ZNF319_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.518T>G r.(?) p.(Leu173Arg) Both (homozygous) - likely pathogenic g.58051252T>G g.58017348T>G - - USB1_000024 - PubMed: Aglaguel 2017 - - Germline - - - - - DNA PCR, SEQ white blood cells - PN Patient 3, family 2 PubMed: Aglaguel 2017 - F yes Morocco - >13y - - - 1 Elisa Adele Colombo
+/+ 5 c.531del r.531delA p.His179Metfs*86 Paternal (confirmed) - pathogenic g.58051265del g.58017361del - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey white >11y - - - 1 Ludovica Volpi
+/+ 5 c.531del r.531delA p.His179Metfs*86 Paternal (confirmed) - pathogenic g.58051265del g.58017361del - - USB1_000007 - Colombo ASHG 2010 meeting PubMed: Colombo 2012, PubMed: Walne 2010 - - Germline yes - - - - 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 white >18y - - - 1 Ludovica Volpi
+/+ 5 c.531del r.531delA p.His179Metfs*86 Maternal (confirmed) - pathogenic g.58051265del g.58017361del - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Colombo 2012 - M yes Turkey white >11y - - - 1 Ludovica Volpi
+/+ 5 c.531del r.531delA p.His179Metfs*86 Maternal (confirmed) - pathogenic g.58051265del g.58017361del - - USB1_000007 - PubMed: Colombo et al. 2012 - - Germline yes - - - - 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 white >18y - - - 1 Ludovica Volpi
+?/+? 5 c.541C>T r.(?) p.(Gln181*) Both (homozygous) - likely pathogenic g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Walne et al. 2010 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Walne 2010 - F no - - - - - - 1 Elisa Adele Colombo
+?/+? 5 c.541C>T r.(?) p.(Gln181*) Both (homozygous) - likely pathogenic g.58051275C>T g.58017371C>T - - USB1_000020 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Clericuzio 2011 - F ? (England) Turkish-British >04y - - patient received GCSF 1 Elisa Adele Colombo
+?/+? 5i c.609+1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.58051344G>A g.58017440G>A - - USB1_000023 - PubMed: Aglaguel 2017 - - Germline yes - - - - DNA PCR, SEQ white blood cells - PN - PubMed: Aglaguel 2017 - F yes Morocco - >11y - - - 2 Elisa Adele Colombo
+?/+? 6 c.623A>G r.(?) p.(His208Arg) Both (homozygous) - likely pathogenic g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Walne 2016 - M yes Afghanistan - - - - - 1 Elisa Adele Colombo
+?/+? 6 c.623A>G r.(?) p.(His208Arg) Both (homozygous) - likely pathogenic g.58052889A>G g.58018985A>G - - USB1_000021 - PubMed: Walne et al. 2016 - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Walne 2016 - F no Afghanistan - - - - - 1 Elisa Adele Colombo
?/. - c.641G>A r.(?) p.(Cys214Tyr) Unknown - VUS g.58052907G>A g.58019003G>A USB1(NM_024598.3):c.641G>A (p.C214Y), USB1(NM_024598.4):c.641G>A (p.C214Y) - ZNF319_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641G>A r.(?) p.(Cys214Tyr) Unknown - VUS g.58052907G>A - USB1(NM_024598.3):c.641G>A (p.C214Y), USB1(NM_024598.4):c.641G>A (p.C214Y) - ZNF319_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.673C>T r.(?) p.(Gln225*) Unknown - likely pathogenic g.58052939C>T g.58019035C>T - - USB1_000015 - PubMed: Clericuzio et al. 2011 - - Germline yes - - - - DNA PCR, SEQ blood or EBV-transformed lymphoblastoid cell lines - PN - PubMed: Clericuzio 2011 - F no - 6.25% Cherokee, 93,75% white >07y - - - 1 Elisa Adele Colombo
+/+ 6_6i c.683_693+1del r.610_693del p.Asp204_Gln231del Paternal (confirmed) - pathogenic g.58052949_58052960del g.58019045_58019056del NM_024598.2:c.666_676+1 del12 (D204_Q231del) - USB1_000002 - PubMed: Volpi 2010 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - PN - PubMed: Pianigiani 2001, PubMed: Volpi 2010 Compound heterozygous affected patient F no Italy white >22y - - - 2 Johan den Dunnen
+?/+? 6i c.693+1G>T r.610_693del p.(Asp204_Gln231del) Unknown - likely pathogenic g.58052960G>T g.58019056G>T - - USB1_000018 - - - - Germline yes - - - - DNA PCR, SEQ - - PN - PubMed: Clericuzio 2011 PubMed: Wang 2003 She has an affected fraternal twin Brother. F no Scotland - >04y - - - 1 Elisa Adele Colombo
?/. - c.704A>T r.(?) p.(Asp235Val) Unknown - VUS g.58054055A>T g.58020151A>T USB1(NM_024598.3):c.704A>T (p.D235V) - ZNF319_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784A>G r.(?) p.(Met262Val) Unknown - likely benign g.58054135A>G g.58020231A>G USB1(NM_024598.3):c.784A>G (p.M262V) - ZNF319_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.