All variants in the QARS gene

Information The variants shown are described using the NM_005051.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

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     
?/. - c.25C>A r.(?) p.(Leu9Ile) - VUS g.49142142G>T g.49104709G>T QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I) - USP19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.25C>A r.(?) p.(Leu9Ile) - benign g.49142142G>T g.49104709G>T QARS(NM_005051.2):c.25C>A (p.L9I), QARS1(NM_005051.3):c.25C>A (p.L9I) - USP19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.25C>A r.(?) p.(Leu9Ile) - likely benign g.49142142G>T g.49104709G>T - - USP19_000006 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62621067 Germline - 5/2794 individuals - 0 - Mohammed Faruq
-?/. - c.117+17C>T r.(=) p.(=) - likely benign g.49142033G>A - QARS1(NM_005051.3):c.117+17C>T - QARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.134G>T r.(?) p.(Gly45Val) - pathogenic g.49141888C>A g.49104455C>A - - QARS_000001 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 2 c.134G>T r.(?) p.(Gly45Val) - pathogenic g.49141888C>A g.49104455C>A - - QARS_000001 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 2 c.169T>C r.(?) p.(Tyr57His) - pathogenic g.49141853A>G g.49104420A>G - - QARS_000003 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 2 c.169T>C r.(?) p.(Tyr57His) - pathogenic g.49141853A>G g.49104420A>G - - QARS_000003 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
-?/. - c.229G>A r.(?) p.(Ala77Thr) - likely benign g.49141793C>T g.49104360C>T QARS1(NM_005051.3):c.229G>A (p.A77T) - QARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.316G>A r.(?) p.(Asp106Asn) - VUS g.49141355C>T g.49103922C>T QARS(NM_005051.2):c.316G>A (p.D106N) - QARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.422G>A r.(?) p.(Arg141His) - VUS g.49141093C>T g.49103660C>T QARS(NM_005051.2):c.422G>A (p.R141H) - USP19_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.451+18C>T r.(=) p.(=) - likely benign g.49141046G>A g.49103613G>A QARS1(NM_005051.3):c.451+18C>T - USP19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.637A>G r.(?) p.(Thr213Ala) - likely benign g.49139327T>C g.49101894T>C QARS(NM_005051.2):c.637A>G (p.T213A) - QARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.673C>T r.(?) p.(Arg225Trp) - likely benign g.49139291G>A g.49101858G>A QARS1(NM_005051.3):c.673C>T (p.R225W) - QARS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.720C>T r.(?) p.(Thr240=) - likely benign g.49139122G>A - QARS(NM_005051.2):c.720C>T (p.T240=) - QARS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.737C>T r.(?) p.(Thr246Ile) - VUS g.49139105G>A - QARS1(NM_005051.3):c.737C>T (p.T246I) - QARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.793C>T r.(?) p.(Arg265Cys) - pathogenic (recessive) g.49138871G>A - - - QARS_000032 - PubMed: Fuchs 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.835G>A r.(?) p.(Gly279Arg) - VUS g.49138829C>T g.49101396C>T QARS(NM_005051.2):c.835G>A (p.G279R) - QARS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.877-17T>C r.(=) p.(=) - likely benign g.49138124A>G g.49100691A>G QARS1(NM_005051.3):c.877-17T>C - QARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1055+10G>C r.(=) p.(=) - likely benign g.49137803C>G g.49100370C>G QARS(NM_005051.2):c.1055+10G>C, QARS1(NM_005051.3):c.1055+10G>C - QARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1055+10G>C r.(=) p.(=) - likely benign g.49137803C>G g.49100370C>G QARS(NM_005051.2):c.1055+10G>C, QARS1(NM_005051.3):c.1055+10G>C - QARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1132C>T r.(?) p.(Arg378Cys) - VUS g.49137655G>A g.49100222G>A QARS(NM_005051.2):c.1132C>T (p.R378C) - QARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1160T>G r.(?) p.(Phe387Cys) - VUS g.49137627A>C g.49100194A>C QARS(NM_005051.2):c.1160T>G (p.F387C) - QARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1171C>T r.(?) p.(Arg391Cys) - VUS g.49137518G>A g.49100085G>A QARS(NM_005051.2):c.1171C>T (p.R391C) - QARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.1207C>T r.(?) p.(Arg403Trp) - pathogenic g.49137482G>A g.49100049G>A - - QARS_000002 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 14 c.1207C>T r.(?) p.(Arg403Trp) - pathogenic g.49137482G>A g.49100049G>A - - QARS_000002 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 15 c.1387C>T r.(?) p.(Arg463*) - pathogenic g.49137195G>A g.49099762G>A - - QARS_000005 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 15 c.1387C>T r.(?) p.Arg463* - NA g.49137195G>A g.49099762G>A - - QARS_000005 aminoacylation activity reduce to 0.00 PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - c.1388+7G>A r.(=) p.(=) - likely benign g.49137187C>T g.49099754C>T QARS(NM_005051.2):c.1388+7G>A, QARS1(NM_005051.3):c.1388+7G>A - QARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1388+7G>A r.(=) p.(=) - likely benign g.49137187C>T g.49099754C>T QARS(NM_005051.2):c.1388+7G>A, QARS1(NM_005051.3):c.1388+7G>A - QARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1426G>A r.(?) p.(Val476Ile) - VUS g.49137043C>T g.49099610C>T QARS(NM_005051.2):c.1426G>A (p.V476I), QARS1(NM_005051.3):c.1426G>A (p.V476I) - QARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1426G>A r.(?) p.(Val476Ile) - likely benign g.49137043C>T g.49099610C>T QARS(NM_005051.2):c.1426G>A (p.V476I), QARS1(NM_005051.3):c.1426G>A (p.V476I) - QARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1525C>T r.(?) p.(Arg509Trp) - VUS g.49136944G>A g.49099511G>A QARS(NM_005051.2):c.1525C>T (p.R509W) - QARS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1542A>G r.(?) p.(Pro514=) - likely benign g.49136849T>C g.49099416T>C QARS(NM_005051.2):c.1542A>G (p.P514=), QARS1(NM_005051.3):c.1542A>G (p.P514=) - QARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1542A>G r.(?) p.(Pro514=) - likely benign g.49136849T>C g.49099416T>C QARS(NM_005051.2):c.1542A>G (p.P514=), QARS1(NM_005051.3):c.1542A>G (p.P514=) - QARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 17 c.1543C>T r.(?) p.(Arg515Trp) - pathogenic g.49136848G>A g.49099415G>A - - QARS_000004 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 17 c.1543C>T r.(?) p.(Arg515Trp) - pathogenic g.49136848G>A g.49099415G>A - - QARS_000004 - PubMed: Zhang 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
?/. - c.1559C>T r.(?) p.(Thr520Met) - VUS g.49136832G>A - QARS(NM_005051.2):c.1559C>T (p.T520M) - QARS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1568G>A r.(?) p.(Arg523Gln) - VUS g.49136823C>T - QARS(NM_005051.2):c.1568G>A (p.R523Q) - QARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1635A>G r.(?) p.(Gln545=) - benign g.49136666T>C g.49099233T>C QARS(NM_005051.2):c.1635A>G (p.Q545=) - QARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1825G>A r.(?) p.(Ala609Thr) - likely benign g.49136356C>T - QARS(NM_005051.2):c.1825G>A (p.A609T) - QARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1864-1G>A r.spl? p.? - likely pathogenic g.49136126C>T g.49098693C>T QARS(NM_005051.3):c.1864-1G>A - QRICH1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1884G>A r.(?) p.(Lys628=) - likely benign g.49136105C>T g.49098672C>T QARS1(NM_005051.3):c.1884G>A (p.K628=) - QRICH1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2081G>A r.(?) p.(Arg694Gln) - likely benign g.49135789C>T g.49098356C>T QARS(NM_005051.2):c.2081G>A (p.R694Q) - QRICH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2084+2_2084+3del r.spl p.? - pathogenic (recessive) g.49135785_49135786del g.49098352_49098353del - - QARS_000031 - PubMed: Fuchs 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 23 c.2226G>T r.(?) p.Gln742His - NA g.49135476C>A g.49098043C>A - - QARS_000007 aAminoacylation activity reduced to 0.10 PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. 23 c.2226G>Y r.(?) p.(Gln742His) - likely pathogenic g.49135476C>R - - - QARS_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - 0 - Johan den Dunnen
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