Unique variants in the WARS2 gene

Information The variants shown are described using the NM_015836.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+?/., ?/. 3 1 c.37T>G r.(?) p.(Trp13Gly) - likely pathogenic, VUS g.119683231A>C g.119140608A>C WARS2(NM_015836.3):c.37T>G (p.W13G) - WARS2_000007 VKGL data sharing initiative Nederland PubMed: Musante 2017, Journal: Musante 2017 - - CLASSIFICATION record, Germline yes - - - - Luciana Musante, VKGL-NL_Groningen
?/. 1 1i c.90+16613T>C r.(=) p.(=) - VUS g.119666565A>G g.119123942A>G - - WARS2_000003 - - - - Germline - - - - - Yu Sun
?/. 2 1i c.91-8867dup r.(=) p.(=) - VUS g.119628103dup g.119085480dup - - WARS2_000002 - - - - Germline - - - - - Yu Sun
?/. 1 1i_2i c.91-8725_348+2711del r.(?) p.(Lys31_Gln116del) - pathogenic g.119616262_119627955del g.119073639_119085332del g.119591860_119627955del36096 - WARS2_000009 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Saskia Wortmann
?/. 2 1i c.91-8626G>A r.(=) p.(=) - VUS g.119627856C>T g.119085233C>T - - WARS2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 1i c.91-7997G>A r.(=) p.(=) - VUS g.119627227C>T g.119084604C>T - - WARS2_000004 - - - - Germline - - - - - Yu Sun
+/. 1 2 c.134G>T r.(?) p.(Gly45Val) - pathogenic (recessive) g.119619187C>A g.119076564C>A - - WARS2_000012 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Saskia Wortmann
+/. 1 2 c.231C>G r.(?) p.(His77Gln) - pathogenic (recessive) g.119619090G>C g.119076467G>C - - WARS2_000014 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Saskia Wortmann
+/. 1 - c.298_300del r.(?) p.(Leu100del) - pathogenic (recessive) g.119619021_119619023del - 298_300delCTT - WARS2_000016 - PubMed: Theisen 2017 - - Germline - - - - - Johan den Dunnen
+?/. 2 2 c.325del r.(?) p.(Ser109Alafs*15) - likely pathogenic (recessive) g.119619001del g.119076378del 325delA - WARS2_000006 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - - - Luciana Musante
+/. 1 5 c.532G>C r.(?) p.(Val178Leu) - pathogenic (recessive) g.119576820C>G g.119034197C>G - - WARS2_000013 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Saskia Wortmann
?/. 1 - c.740T>C r.(?) p.(Ile247Thr) - VUS g.119575877A>G - WARS2(NM_015836.3):c.740T>C (p.I247T) - WARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 6 c.797del r.(?) p.(Pro266Argfs*10) - pathogenic, pathogenic (recessive) g.119575822del g.119033199del 797delC, WARS2(NM_015836.3):c.797delC (p.P266Rfs*10) - WARS2_000011 VKGL data sharing initiative Nederland PubMed: Wortmann 2017, Journal: Wortmann 2017 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, Saskia Wortmann, VKGL-NL_Groningen
+/., +?/. 6 6 c.938A>T r.(?) p.(Lys313Met) - likely pathogenic, pathogenic, pathogenic (recessive) g.119575679T>A g.119033056T>A WARS2(NM_015836.3):c.938A>T (p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland PubMed: Theisen 2017, PubMed: Wortmann 2017, Journal: Wortmann 2017 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam, Saskia Wortmann, VKGL-NL_Groningen
+/. 1 6 c.1045G>C r.(?) p.(Val349Leu) - pathogenic (recessive) g.119575572C>G g.119032949C>G - - WARS2_000008 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Saskia Wortmann
+/. 1 - c.1054G>A r.(?) p.(Glu352Lys) - pathogenic (recessive) g.119575563C>T - - - WARS2_000015 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - Johan den Dunnen
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