Unique variants in the UBA1 gene

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

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.-7748C>T r.(?) p.(=) - VUS g.47045676C>T - RBM10(NM_001204468.1):c.2752C>T (p.R918W) - UBA1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-7647G>A r.(?) p.(=) - likely benign g.47045777G>A - RBM10(NM_001204468.1):c.2853G>A (p.T951=) - UBA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1-555A>G r.(=) p.(=) - benign g.47057647A>G g.47198248A>G UBA1(NM_003334.4):c.1-555A>G - UBA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 6 3 c.121A>C r.(?) p.(Met41Leu) - pathogenic, pathogenic (!) g.47058450A>C g.47199051A>C UBA1(NM_003334.4):c.121A>C (p.M41L) - UBA1_000069 somatic mosaicism, VKGL data sharing initiative Nederland PubMed: Beck 2020 - - CLASSIFICATION record, Somatic - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 6 3 c.121A>G r.(?) p.(Met41Val) - pathogenic, pathogenic (!) g.47058450A>G g.47199051A>G - - UBA1_000068 somatic mosaicism, somatic mosaicism; variant absent from fibroblasts, 1 more item PubMed: Beck 2020 - - CLASSIFICATION record, Somatic - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 18 3 c.122T>C r.(?) p.(Met41Thr) - pathogenic, pathogenic (!) g.47058451T>C g.47199052T>C UBA1(NM_003334.4):c.122T>C (p.M41T) - UBA1_000070 somatic mosaicism, somatic mosaicism; variant absent from fibroblasts, 1 more item PubMed: Beck 2020 - - CLASSIFICATION record, Somatic - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.147C>T r.(?) p.(Asp49=) - likely benign g.47058476C>T - UBA1(NM_003334.4):c.147C>T (p.D49=) - UBA1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.153C>T r.(?) p.(Asp51=) - likely benign g.47058482C>T g.47199083C>T UBA1(NM_003334.4):c.153C>T (p.D51=) - UBA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.176+13A>G r.(=) p.(=) - VUS g.47058518A>G g.47199119A>G - - UBA1_000021 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.206G>A r.(?) p.(Arg69Gln) - likely benign g.47058637G>A g.47199238G>A UBA1(NM_003334.4):c.206G>A (p.R69Q) - UBA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.334C>T r.(?) p.(Leu112Phe) - VUS g.47058765C>T - UBA1(NM_003334.4):c.334C>T (p.L112F) - UBA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.480+344dup r.(=) p.(=) - VUS g.47059357dup g.47199958dup - - UBA1_000024 - - - - Germline - - - - - Yu Sun
-?/. 1 6 c.488T>C c.(488u>c) p.(Val163Ala) - VUS g.47060300T>C g.47200901T>C - - UBA1_000050 - - - - Germline - - - - - Gerarda Cappuccio
?/. 1 - c.574C>T r.(?) p.(Arg192Trp) - VUS g.47060386C>T g.47200987C>T UBA1(NM_003334.4):c.574C>T (p.R192W) - UBA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.575G>A r.(?) p.(Arg192Gln) - VUS g.47060387G>A g.47200988G>A UBA1(NM_003334.4):c.575G>A (p.R192Q) - UBA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.622C>T r.(?) p.(Leu208Phe) - VUS g.47060709C>T g.47201310C>T UBA1(NM_003334.4):c.622C>T (p.L208F) - UBA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.648A>G r.(?) p.(Pro216=) - likely benign g.47060735A>G g.47201336A>G UBA1(NM_003334.4):c.648A>G (p.P216=) - UBA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.649C>T r.(?) p.(Leu217Phe) - likely benign g.47060736C>T g.47201337C>T UBA1(NM_003334.4):c.649C>T (p.L217F) - UBA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.679-33C>G r.(=) p.(=) - benign, VUS g.47060844C>G g.47201445C>G - - UBA1_000011 - - - rs4239963 Germline - - - - - Yu Sun, Andreas Laner
-?/. 1 - c.732C>T r.(?) p.(Ser244=) - likely benign g.47060930C>T g.47201531C>T UBA1(NM_003334.4):c.732C>T (p.S244=) - UBA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., ?/. 5 - c.811+9C>G r.(=) p.(=) - benign, VUS g.47061018C>G g.47201619C>G UBA1(NM_003334.4):c.811+9C>G - UBA1_000014 VKGL data sharing initiative Nederland - - rs4239964 CLASSIFICATION record, Germline, Unknown ? 0.99 controls - - - Yu Sun, VKGL-NL_Groningen, VKGL-NL_AMC, Florian Erger
?/. 1 - c.851C>G r.(?) p.(Ser284Cys) - VUS g.47061594C>G g.47202195C>G UBA1(NM_003334.4):c.851C>G (p.S284C) - UBA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.903T>G r.(?) p.(Ile301Met) - VUS g.47061646T>G g.47202247T>G UBA1(NM_003334.4):c.903T>G (p.I301M) - UBA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.910-19A>C r.(=) p.(=) - likely benign g.47061738A>C g.47202339A>C UBA1(NM_003334.4):c.910-19A>C - UBA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.954G>A r.(?) p.(Thr318=) - likely benign g.47061801G>A g.47202402G>A UBA1(NM_003334.4):c.954G>A (p.T318=) - UBA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.965A>G r.(?) p.(Lys322Arg) - likely benign g.47061812A>G g.47202413A>G UBA1(NM_003334.4):c.965A>G (p.K322R) - UBA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1014G>C r.(?) p.(Gln338His) - VUS g.47061861G>C - UBA1(NM_003334.4):c.1014G>C (p.Q338H) - UBA1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1042C>T r.(?) p.(Arg348Trp) - VUS g.47061889C>T - UBA1(NM_003334.4):c.1042C>T (p.R348W) - UBA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1057-56del r.(=) p.(=) - VUS g.47061981del g.47202582del - - UBA1_000025 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1057-53del r.(=) p.(=) - VUS g.47061984del g.47202585del - - UBA1_000019 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1077A>C r.(?) p.(Val359=) - likely benign g.47062057A>C g.47202658A>C UBA1(NM_003334.4):c.1077A>C (p.V359=) - UBA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1137C>T r.(?) p.(Asp379=) - likely benign g.47062117C>T g.47202718C>T UBA1(NM_003334.4):c.1137C>T (p.D379=) - UBA1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1149C>T r.(?) p.(Ile383=) - likely benign g.47062129C>T - UBA1(NM_003334.4):c.1149C>T (p.I383=) - UBA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 13 c.1242C>T r.(?) p.(=), p.(Ser414=) - likely benign, VUS g.47062350C>T g.47202951C>T S414S, UBA1(NM_003334.4):c.1242C>T (p.S414=) - UBA1_000048 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 13 c.1296C>T r.(?) p.(=) - VUS g.47062404C>T g.47203005C>T L432L - UBA1_000049 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-/., ?/. 5 - c.1340G>A r.(?) p.(Arg447His) - benign, VUS g.47062534G>A g.47203135G>A UBA1(NM_003334.4):c.1340G>A (p.R447H) - UBA1_000003 VKGL data sharing initiative Nederland - - rs2070169 CLASSIFICATION record, Germline, Unknown ? 0.1 controls - - - Yu Sun, Andreas Laner, VKGL-NL_AMC, Florian Erger
-?/. 2 - c.1486G>A r.(?) p.(Glu496Lys) - likely benign g.47063006G>A g.47203607G>A UBA1(NM_003334.4):c.1486G>A (p.E496K) - UBA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1575G>A r.(?) p.(Thr525=) - VUS g.47063095G>A - UBA1(NM_003334.4):c.1575G>A (p.T525=) - UBA1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1575+67_1575+68dup r.(=) p.(=) - VUS g.47063162_47063163dup g.47203763_47203764dup - - UBA1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1575+68dup r.(=) p.(=) - VUS g.47063163dup g.47203764dup - - UBA1_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1576-161G>A r.(=) p.(=) - VUS g.47065186G>A g.47205787G>A - - UBA1_000006 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1610G>A r.(?) p.(Arg537His) - likely benign g.47065381G>A - UBA1(NM_003334.4):c.1610G>A (p.R537H) - UBA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1630C>T r.(?) p.(Arg544Trp) - VUS g.47065401C>T g.47206002C>T UBA1(NM_003334.4):c.1630C>T (p.R544W) - UBA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1702C>G r.(?) p.(Leu568Val) - benign, likely benign g.47065473C>G g.47206074C>G UBA1(NM_003334.3):c.1702C>G (p.(Leu568Val)), UBA1(NM_003334.4):c.1702C>G (p.L568V) - UBA1_000037 12 heterozygous; Clinindb (India), 8 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs150574055 CLASSIFICATION record, Germline - 12/2794 individuals, 8/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_AMC, Mohammed Faruq
+/., +?/. 2 - c.1731C>T r.(=) p.(=) - likely pathogenic, pathogenic g.47065502C>T g.47206103C>T - - UBA1_000026 - - - - Germline, Somatic - - - - - Andreas Laner, Alfons Meindl
-/. 1 - c.1742-18G>A r.(=) p.(=) - benign g.47065629G>A g.47206230G>A UBA1(NM_003334.4):c.1742-18G>A - UBA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1742-11G>C r.(=) p.(=) - benign g.47065636G>C g.47206237G>C UBA1(NM_003334.4):c.1742-11G>C - UBA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1791G>A r.(?) p.(Glu597=) - likely benign g.47065696G>A g.47206297G>A UBA1(NM_003334.4):c.1791G>A (p.E597=) - UBA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2004-13C>T r.(=) p.(=) - benign g.47069314C>T g.47209915C>T UBA1(NM_003334.4):c.2004-13C>T - UBA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2037G>A r.(?) p.(Leu679=) - benign g.47069360G>A g.47209961G>A UBA1(NM_003334.4):c.2037G>A (p.L679=) - UBA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2168G>A r.(?) p.(Arg723Gln) - VUS g.47069491G>A - UBA1(NM_003334.4):c.2168G>A (p.R723Q) - UBA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2220G>A r.(?) p.(Pro740=) - benign g.47070261G>A g.47210862G>A UBA1(NM_003334.4):c.2220G>A (p.P740=) - UBA1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.2376G>A r.(?) p.(Gln792=) - benign, likely benign g.47070536G>A - UBA1(NM_003334.4):c.2376G>A (p.Q792=) - UBA1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 2 - c.2464+331C>T r.(=) p.(=) - VUS g.47070955C>T g.47211556C>T - - UBA1_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2638C>T r.(?) p.(Arg880Trp) - VUS g.47072254C>T g.47212855C>T UBA1(NM_003334.4):c.2638C>T (p.R880W) - UBA1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3170T>G r.(?) p.(Ile1057Ser) - VUS g.47074321T>G g.47214922T>G UBA1(NM_003334.4):c.3170T>G (p.I1057S) - UBA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*203C>T r.spl? p.? - VUS g.47074531C>T g.47215132C>T - - UBA1_000027 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.*3725T>C r.(=) p.(=) - VUS g.47078053T>C g.47218654T>C CDK16(NM_033018.3):c.2T>C (p.M1?) - CDK16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3733G>C r.(=) p.(=) - likely benign g.47078061G>C g.47218662G>C CDK16(NM_033018.3):c.10G>C (p.E4Q) - UBA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3734A>C r.(=) p.(=) - likely benign g.47078062A>C - CDK16(NM_033018.3):c.11A>C (p.E4A) - UBA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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