Full data view for gene USP11

Information The variants shown are described using the NM_004651.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
Legend  

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.-4282T>C r.(?) p.(=) Unknown - likely benign g.47088032T>C g.47228633T>C CDK16(NM_001170460.1):c.1664T>C (p.(Met555Thr)) - USP11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4180G>A r.(?) p.(=) Unknown - likely benign g.47088134G>A g.47228735G>A CDK16(NM_033018.3):c.1476G>A (p.R492=) - USP11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313G>C r.(?) p.(Val105Leu) Unknown - VUS g.47098476G>C g.47239077G>C USP11(NM_004651.3):c.313G>C (p.V105L, p.(Val105Leu)) - USP11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.313G>C r.(?) p.(Val105Leu) Unknown - VUS g.47098476G>C g.47239077G>C USP11(NM_004651.3):c.313G>C (p.V105L, p.(Val105Leu)) - USP11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.377C>T r.(?) p.(Thr126Ile) Unknown - VUS g.47098540C>T - USP11(NM_004651.3):c.377C>T (p.T126I) - USP11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428G>T r.(?) p.(Trp143Leu) Unknown - VUS g.47098762G>T g.47239363G>T USP11(NM_004651.3):c.428G>T (p.W143L) - USP11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448G>A r.(?) p.(Val150Met) Parent #1 - VUS g.47098782G>A g.47239383G>A - - USP11_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.520C>T r.(?) p.(His174Tyr) Unknown - likely benign g.47098854C>T - USP11(NM_004651.3):c.520C>T (p.H174Y) - chrX_016325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.722G>A r.(?) p.(Arg241Gln) Both (homozygous) - pathogenic g.47099761G>A g.47240362G>A NM_004651: c.G722A; p.R241Q - USP11_000010 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB3410 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 2 Johan den Dunnen
?/. - c.1088C>T r.(?) p.(Ala363Val) Unknown - VUS g.47100788C>T g.47241389C>T USP11(NM_004651.3):c.1088C>T (p.A363V) - USP11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1296G>A r.(?) p.(Gly432=) Unknown - likely benign g.47101086G>A - USP11(NM_004651.3):c.1296G>A (p.G432=) - chrX_016326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1515G>A r.(=) p.(=) Parent #1 - likely benign g.47101687G>A g.47242288G>A P505P - USP11_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1712+266G>A r.(=) p.(=) Unknown - VUS g.47102385G>A g.47242986G>A - - USP11_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1824C>T r.(?) p.(Tyr608=) Unknown - likely benign g.47102906C>T g.47243507C>T USP11(NM_004651.3):c.1824C>T (p.Y608=) - USP11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2068G>A r.(?) p.(Val690Ile) Unknown - VUS g.47104176G>A g.47244777G>A USP11(NM_004651.3):c.2068G>A (p.(Val690Ile)) - USP11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2135G>A r.(?) p.(Arg712Gln) Unknown - VUS g.47104243G>A g.47244844G>A USP11(NM_004651.3):c.2135G>A (p.R712Q) - USP11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2271C>T r.(?) p.(Asp757=) Unknown - likely benign g.47104470C>T g.47245071C>T USP11(NM_004651.3):c.2271C>T (p.D757=) - USP11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2310C>T r.(=) p.(=) Parent #1 - likely benign g.47104792C>T g.47245393C>T V770V - USP11_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2334C>T r.(?) p.(Pro778=) Unknown - likely benign g.47104816C>T g.47245417C>T USP11(NM_004651.3):c.2334C>T (p.P778=) - USP11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2400-52del r.(=) p.(=) Unknown - VUS g.47106419del g.47247020del - - USP11_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2400-52del r.(=) p.(=) Unknown - VUS g.47106419del g.47247020del - - USP11_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2562C>T r.(=) p.(=) Parent #1 - likely benign g.47106715C>T g.47247316C>T F854F - USP11_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2594C>T r.(?) p.(Ser865Leu) Unknown - likely benign g.47106747C>T g.47247348C>T USP11(NM_004651.3):c.2594C>T (p.S865L) - USP11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2727C>A r.(=) p.(=) Parent #1 - likely benign g.47107071C>A g.47247672C>A V909V - USP11_000021 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-/. - c.2727C>A r.(?) p.(Val909=) Unknown - benign g.47107071C>A g.47247672C>A USP11(NM_001371072.1):c.2598C>A (p.V866=) - USP11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2757C>G r.(?) p.(Ser919=) Unknown - likely benign g.47107194C>G g.47247795C>G USP11(NM_004651.3):c.2757C>G (p.(=)) - USP11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2801G>A r.(?) p.(Arg934Gln) Unknown - likely benign g.47107238G>A g.47247839G>A USP11(NM_004651.3):c.2801G>A (p.R934Q) - USP11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*21del r.(=) p.(=) Unknown - VUS g.47107350del g.47247951del - - USP11_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*21del r.(=) p.(=) Unknown - VUS g.47107350del g.47247951del - - USP11_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*37dup r.(=) p.(=) Unknown - VUS g.47107366dup g.47247967dup - - USP11_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend