Full data view for gene WARS2

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

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - VUS g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES MRT Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - 0 - - 3 Luciana Musante
?/. 1 c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - VUS g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - 0 - DNA SEQ - WES MRT Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - 0 - - 1 Luciana Musante
+?/. - c.37T>G r.(?) p.(Trp13Gly) Unknown - likely pathogenic g.119683231A>C - WARS2(NM_015836.3):c.37T>G (p.W13G) - WARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.90+16613T>C r.(=) p.(=) Both (homozygous) - VUS g.119666565A>G g.119123942A>G - - WARS2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i c.91-8867dup r.(=) p.(=) Unknown - VUS g.119628103dup g.119085480dup - - WARS2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i c.91-8867dup r.(=) p.(=) Unknown - VUS g.119628103dup g.119085480dup - - WARS2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i_2i c.91-8725_348+2711del r.(?) p.(Lys31_Gln116del) Paternal (confirmed) - pathogenic g.119616262_119627955del g.119073639_119085332del g.119591860_119627955del36096 - WARS2_000009 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ-NG blood - ? FAM1PATII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia Slowakia 00y00m23d 0 - - 1 Saskia Wortmann
?/. 1i c.91-8626G>A r.(=) p.(=) Unknown - VUS g.119627856C>T g.119085233C>T - - WARS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i c.91-8626G>A r.(=) p.(=) Unknown - VUS g.119627856C>T g.119085233C>T - - WARS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 1i c.91-7997G>A r.(=) p.(=) Unknown - VUS g.119627227C>T g.119084604C>T - - WARS2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 2 c.134G>T r.(?) p.(Gly45Val) Maternal (confirmed) - pathogenic (recessive) g.119619187C>A g.119076564C>A - - WARS2_000012 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ - - ? Fam5PatIIi PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - >10y 0 - - 1 Saskia Wortmann
+/. 2 c.231C>G r.(?) p.(His77Gln) Parent #1 - pathogenic (recessive) g.119619090G>C g.119076467G>C - - WARS2_000014 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ-NG - - ? Fam3PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - 03y 0 - - 1 Saskia Wortmann
+/. - c.298_300del r.(?) p.(Leu100del) Paternal (confirmed) - pathogenic (recessive) g.119619021_119619023del - 298_300delCTT - WARS2_000016 - PubMed: Theisen 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? patient PubMed: Theisen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - 0 - - 1 Johan den Dunnen
+?/. 2 c.325del r.(?) p.(Ser109Alafs*15) Paternal (confirmed) - likely pathogenic (recessive) g.119619001del g.119076378del 325delA - WARS2_000006 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES MRT Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - 0 - - 3 Luciana Musante
+?/. 2 c.325del r.(?) p.(Ser109Alafs*15) Paternal (confirmed) - likely pathogenic (recessive) g.119619001del g.119076378del 325delA - WARS2_000006 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - 0 - DNA SEQ - WES MRT Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - 0 - - 1 Luciana Musante
+/. 5 c.532G>C r.(?) p.(Val178Leu) Both (homozygous) - pathogenic (recessive) g.119576820C>G g.119034197C>G - - WARS2_000013 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ-NG - - ? Fam4PatII3 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >03y 0 - - 1 Saskia Wortmann
?/. - c.740T>C r.(?) p.(Ile247Thr) Unknown - VUS g.119575877A>G - WARS2(NM_015836.3):c.740T>C (p.I247T) - WARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.797del r.(?) p.(Pro266Argfs*10) Paternal (confirmed) - pathogenic (recessive) g.119575822del g.119033199del 797delC - WARS2_000011 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - 0 - DNA SEQ-NG - - ? Fam2PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - 03y06m 0 - - 2 Saskia Wortmann
+/. 6 c.797del r.(?) p.(Pro266Argfs*10) Paternal (confirmed) - pathogenic (recessive) g.119575822del g.119033199del 797delC - WARS2_000011 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - 0 - DNA SEQ-NG - - ? Fam2PatII2 PubMed: Wortmann 2017, Journal: Wortmann 2017 brother M - Netherlands - 1y6m 0 - - 1 Johan den Dunnen
+/. - c.797del r.(?) p.(Pro266Argfs*10) Unknown - pathogenic g.119575822del - WARS2(NM_015836.3):c.797delC (p.P266Rfs*10) - WARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - 0 - DNA SEQ-NG - - ? Fam2PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - 03y06m 0 - - 2 Saskia Wortmann
+/. 6 c.938A>T r.(?) p.(Lys313Met) Paternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ - - ? Fam5PatIIi PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - >10y 0 - - 1 Saskia Wortmann
+/. 6 c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - 0 - DNA SEQ-NG - - ? Fam2PatII2 PubMed: Wortmann 2017, Journal: Wortmann 2017 brother M - Netherlands - 1y6m 0 - - 1 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A - - - WARS2_000010 - PubMed: Theisen 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ? patient PubMed: Theisen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - 0 - - 1 Johan den Dunnen
+?/. - c.938A>T r.(?) p.(Lys313Met) Unknown - likely pathogenic g.119575679T>A - WARS2(NM_015836.3):c.938A>T (p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.938A>T r.(?) p.(Lys313Met) Unknown - pathogenic g.119575679T>A - WARS2(NM_015836.3):c.938A>T (p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1045G>C r.(?) p.(Val349Leu) Maternal (confirmed) - pathogenic (recessive) g.119575572C>G g.119032949C>G - - WARS2_000008 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ-NG blood - ? FAM1PATII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia Slowakia 00y00m23d 0 - - 1 Saskia Wortmann
+/. - c.1054G>A r.(?) p.(Glu352Lys) Parent #2 - pathogenic (recessive) g.119575563C>T - - - WARS2_000015 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - 0 - DNA SEQ-NG - - ? Fam3PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - 03y 0 - - 1 Saskia Wortmann
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