Unique variants in gene UBA1

Information The variants shown are described using the NM_003334.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.1-555A>G benign r.(=) p.(=) g.47057647A>G - UBA1(NM_003334.3):c.1-555A>G - UBA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.132C>T benign r.(?) p.(=) g.47058461C>T - UBA1(NM_003334.3):c.132C>T (p.=) - UBA1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.153C>T likely benign r.(?) p.(=) g.47058482C>T - UBA1(NM_003334.3):c.153C>T (p.=) - UBA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.176+13A>G - - p.(=) g.47058518A>G g.47199119A>G - - UBA1_000021 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.206G>A likely benign r.(?) p.(Arg69Gln) g.47058637G>A - UBA1(NM_003334.3):c.206G>A (p.R69Q) - UBA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.480+344dup - - p.(=) g.47059357dup g.47199958dup - - UBA1_000024 - - - - Germline - - - - - Yu Sun
-?/. 1 6 c.488T>C VUS c.(488u>c) p.(Val163Ala) g.47060300T>C - - - UBA1_000050 - - - - Germline - - - - - Gerarda Cappuccio
?/. 1 - c.575G>A VUS r.(?) p.(Arg192Gln) g.47060387G>A - UBA1(NM_003334.3):c.575G>A (p.R192Q) - UBA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.649C>T likely benign r.(?) p.(Leu217Phe) g.47060736C>T - UBA1(NM_003334.3):c.649C>T (p.L217F) - UBA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 3 - c.679-33C>G - r.(=) p.(=) g.47060844C>G g.47201445C>G - - UBA1_000011 - - - rs4239963 Germline - - - - - Yu Sun, Andreas Laner
-?/. 1 - c.732C>T likely benign r.(?) p.(=) g.47060930C>T - UBA1(NM_003334.3):c.732C>T (p.=) - UBA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 5 - c.811+9C>G benign r.(=) p.(=) g.47061018C>G g.47201619C>G UBA1(NM_003334.3):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - rs4239964 Germline, CLASSIFICATION record, Unknown ? 0.99 controls - - - Yu Sun, VKGL-NL_AMC, VKGL-NL_Groningen, Florian Erger
?/. 1 - c.851C>G VUS r.(?) p.(Ser284Cys) g.47061594C>G - UBA1(NM_003334.3):c.851C>G (p.S284C) - UBA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.910-19A>C likely benign r.(=) p.(=) g.47061738A>C - UBA1(NM_003334.3):c.910-19A>C - UBA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.954G>A likely benign r.(?) p.(=) g.47061801G>A - UBA1(NM_003334.3):c.954G>A (p.T318=) - UBA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.965A>G likely benign r.(?) p.(Lys322Arg) g.47061812A>G - UBA1(NM_003334.3):c.965A>G (p.K322R) - UBA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1057-56del - - p.(=) g.47061981del g.47202582del - - UBA1_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1057-53del - - p.(=) g.47061984del g.47202585del - - UBA1_000019 - - - - Germline - - - - - Yu Sun
?/. 1 13 c.1242C>T - r.(?) p.(=) g.47062350C>T - S414S - UBA1_000048 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 13 c.1296C>T - r.(?) p.(=) g.47062404C>T - L432L - UBA1_000049 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/., -/. 5 - c.1340G>A benign r.(?) p.(Arg447His) g.47062534G>A g.47203135G>A UBA1(NM_003334.3):c.1340G>A (p.R447H) - UBA1_000003 VKGL data sharing initiative Nederland - - rs2070169 Germline, CLASSIFICATION record, Unknown ? 0.1 controls - - - Yu Sun, VKGL-NL, Florian Erger, Andreas Laner
-?/. 2 - c.1486G>A likely benign r.(?) p.(Glu496Lys) g.47063006G>A - UBA1(NM_003334.3):c.1486G>A (p.E496K) - UBA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1575+68dup - - p.(=) g.47063163dup g.47203764dup - - UBA1_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1575+68_1575+69insTT - - p.(=) g.47063163_47063164insTT g.47203764_47203765insTT - - UBA1_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1576-161G>A - - p.(=) g.47065186G>A g.47205787G>A - - UBA1_000006 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1630C>T VUS r.(?) p.(Arg544Trp) g.47065401C>T - UBA1(NM_003334.3):c.1630C>T (p.R544W) - UBA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1702C>G likely benign, benign r.(?) p.(Leu568Val) g.47065473C>G - UBA1(NM_003334.3):c.1702C>G (p.L568V) - UBA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+?/., +/. 2 - c.1731C>T - r.(=) p.(=) g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Somatic, Germline - - - - - Alfons Meindl, Andreas Laner
-/. 1 - c.1742-18G>A benign r.(=) p.(=) g.47065629G>A - UBA1(NM_003334.3):c.1742-18G>A - UBA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1742-11G>C benign r.(=) p.(=) g.47065636G>C - UBA1(NM_003334.3):c.1742-11G>C - UBA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1791G>A likely benign r.(?) p.(=) g.47065696G>A - UBA1(NM_003334.3):c.1791G>A (p.=) - UBA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1808C>G likely benign r.(?) p.(Thr603Ser) g.47065713C>G - UBA1(NM_003334.3):c.1808C>G (p.(Thr603Ser)) - UBA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2004-13C>T benign r.(=) p.(=) g.47069314C>T - UBA1(NM_003334.3):c.2004-13C>T - UBA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2037G>A benign r.(?) p.(=) g.47069360G>A - UBA1(NM_003334.3):c.2037G>A (p.=) - UBA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2220G>A benign r.(?) p.(=) g.47070261G>A - UBA1(NM_003334.3):c.2220G>A (p.=) - UBA1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2308A>C likely benign r.(?) p.(Asn770His) g.47070468A>C - UBA1(NM_003334.3):c.2308A>C (p.(Asn770His)) - UBA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2351G>A likely benign r.(?) p.(Arg784Gln) g.47070511G>A - UBA1(NM_003334.3):c.2351G>A (p.(Arg784Gln)) - UBA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.2464+331C>T - - p.(=) g.47070955C>T g.47211556C>T - - UBA1_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2638C>T VUS r.(?) p.(Arg880Trp) g.47072254C>T - UBA1(NM_003334.3):c.2638C>T (p.R880W) - UBA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3170T>G VUS r.(?) p.(Ile1057Ser) g.47074321T>G - UBA1(NM_003334.3):c.3170T>G (p.I1057S) - UBA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*203C>T - r.spl? p.? g.47074531C>T g.47215132C>T - - UBA1_000027 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.*3725T>C VUS r.(=) p.(=) g.47078053T>C - CDK16(NM_033018.3):c.2T>C (p.M1?) - CDK16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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