Unique variants in gene USP11

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-4294G>C likely benign r.(?) p.(=) g.47088020G>C - CDK16(NM_001170460.1):c.1652G>C (p.(Arg551Pro), p.(Arg477Pro), p.(Arg483Pro)) - CDK16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4282T>C likely benign r.(?) p.(=) g.47088032T>C - CDK16(NM_001170460.1):c.1664T>C (p.(Met555Thr), p.(Met481Thr), p.(Met487Thr)) - USP11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.313G>C VUS r.(?) p.(Val105Leu) g.47098476G>C - USP11(NM_004651.3):c.313G>C (p.(Val105Leu)) - USP11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.428G>T VUS r.(?) p.(Trp143Leu) g.47098762G>T - USP11(NM_004651.3):c.428G>T (p.W143L) - USP11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.448G>A - r.(?) p.(Val150Met) g.47098782G>A - - - USP11_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/. 1 - c.722G>A - r.(?) p.(Arg241Gln) g.47099761G>A - NM_004651: c.G722A; p.R241Q - USP11_000010 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1088C>T VUS r.(?) p.(Ala363Val) g.47100788C>T - USP11(NM_004651.3):c.1088C>T (p.A363V) - USP11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1515G>A - r.(=) p.(=) g.47101687G>A - P505P - USP11_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1712+266G>A - - p.(=) g.47102385G>A g.47242986G>A - - USP11_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2068G>A VUS r.(?) p.(Val690Ile) g.47104176G>A - USP11(NM_004651.3):c.2068G>A (p.(Val690Ile)) - USP11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2135G>A VUS r.(?) p.(Arg712Gln) g.47104243G>A - USP11(NM_004651.3):c.2135G>A (p.R712Q) - USP11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2271C>T likely benign r.(?) p.(=) g.47104470C>T - USP11(NM_004651.3):c.2271C>T (p.D757=) - USP11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2310C>T - r.(=) p.(=) g.47104792C>T - V770V - USP11_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2334C>T likely benign r.(?) p.(=) g.47104816C>T - USP11(NM_004651.3):c.2334C>T (p.P778=) - USP11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.2400-52del - - p.(=) g.47106419del g.47247020del - - USP11_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2562C>T - r.(=) p.(=) g.47106715C>T - F854F - USP11_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2594C>T likely benign r.(?) p.(Ser865Leu) g.47106747C>T - USP11(NM_004651.3):c.2594C>T (p.S865L) - USP11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.2727C>A benign r.(=), r.(?) p.(=) g.47107071C>A - V909V, USP11(NM_004651.3):c.2727C>A (p.=) - USP11_000021 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 2/208 cases - - - Lucy Raymond, VKGL-NL
-?/. 1 - c.2757C>G likely benign r.(?) p.(=) g.47107194C>G - USP11(NM_004651.3):c.2757C>G (p.(=)) - USP11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2801G>A likely benign r.(?) p.(Arg934Gln) g.47107238G>A - USP11(NM_004651.3):c.2801G>A (p.R934Q) - USP11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.*21del - - p.(=) g.47107350del g.47247951del - - USP11_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*37dup - - p.(=) g.47107366dup g.47247967dup - - USP11_000006 - - - - Germline - - - - - Yu Sun
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