Full data view for gene IARS

NOTE: gene name changed from IARS to IARS1
Information The variants shown are described using the NM_002161.5 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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     
?/. - c.183G>A r.(?) p.(=) Unknown - VUS g.95050501C>T - IARS(NM_002161.6):c.183G>A (p.(Ala61=)) - IARS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.333G>C r.(?) p.(Met111Ile) Unknown - VUS g.95050136C>G - IARS(NM_002161.6):c.333G>C (p.(Met111Ile)) - IARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Asp143=) Unknown - likely benign g.95048868G>A - IARS(NM_013417.3):c.429C>T (p.D143=) - IARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.595A>T r.[397_597del,=] p.[Ser133_Lys199del,Lys199Ter] Unknown - likely pathogenic g.95048006T>A g.92285724T>A - - IARS_000038 effect on RNA exclusion of exon - - - In vitro (cloned) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.665C>G r.(?) p.(Ala222Gly) Unknown - VUS g.95043108G>C - IARS(NM_002161.5):c.665C>G (p.(Ala222Gly)) - IARS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745+9G>A r.(=) p.(=) Unknown - likely benign g.95043019C>T - IARS(NM_002161.6):c.745+9G>A - IARS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.760C>T r.(?) p.(Arg254*) Paternal (confirmed) - pathogenic (recessive) g.95040554G>A g.92278272G>A - - IARS_000024 - PubMed: Kopajtichk 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2(85880) PubMed: Kopajtichk 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.820G>C r.(?) p.(Glu274Gln) Unknown - likely benign g.95040494C>G g.92278212C>G IARS(NM_002161.4):c.820G>C (p.(Glu274Gln)) - IARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.820G>T r.(?) p.(Glu274Ter) Unknown - VUS g.95040494C>A g.92278212C>A IARS(NM_013417.3):c.820G>T (p.E274*) - IARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878T>C r.(?) p.(Phe293Ser) Unknown - VUS g.95040161A>G - IARS(NM_002161.4):c.878T>C (p.(Phe293Ser)) - IARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895-5T>A r.spl? p.? Unknown - VUS g.95036808A>T - IARS(NM_001378571.1):c.911T>A (p.(Phe304Tyr)) - IARS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904A>T r.(?) p.(Asn302Tyr) Unknown - likely benign g.95036794T>A - IARS(NM_013417.3):c.904A>T (p.N302Y) - IARS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075A>C r.(?) p.(Thr359Pro) Unknown - likely benign g.95033853T>G g.92271571T>G IARS(NM_002161.4):c.1075A>C (p.(Thr359Pro)) - IARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1109T>G r.(?) p.(Val370Gly) Maternal (confirmed) - likely pathogenic (recessive) g.95033819A>C g.92271537A>C - - IARS_000026 - PubMed: Kopajtichk 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat3(83921) PubMed: Kopajtichk 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia - - - - - 1 Johan den Dunnen
?/. - c.1121A>T r.(?) p.(Asp374Val) Unknown - VUS g.95033351T>A g.92271069T>A IARS(NM_013417.3):c.1121A>T (p.D374V) - IARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1252C>T r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.95032219G>A g.92269937G>A - - IARS_000022 mono-allelic expression PubMed: Kopajtichk 2016, PubMed: Yepez 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat1(65269) PubMed: Kopajtichk 2016, , PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1305G>C r.(?) p.(Trp435Cys) Parent #1 - pathogenic (recessive) g.95030582C>G - - - IARS_000008 - PubMed: Fuchs 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? P1 PubMed: Fuchs 2019 - F - - - 00y04m - - - 1 Johan den Dunnen
+/. - c.1305G>C r.(?) p.(Trp435Cys) Parent #1 - pathogenic (recessive) g.95030582C>G - - - IARS_000008 - PubMed: Fuchs 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? P2 PubMed: Fuchs 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1305G>C r.(?) p.(Trp435Cys) Unknown - VUS g.95030582C>G - IARS1(NM_013417.4):c.1305G>C (p.W435C) - IARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1310C>T r.(?) p.(Pro437Leu) Maternal (confirmed) - likely pathogenic (recessive) g.95030577G>A g.92268295G>A - - IARS_000025 - PubMed: Kopajtichk 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2(85880) PubMed: Kopajtichk 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.1358G>A r.(?) p.(Arg453His) Unknown - likely benign g.95030529C>T - IARS(NM_002161.6):c.1358G>A (p.(Arg453His)) - IARS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1627G>C r.(?) p.(Glu543Gln) Unknown - VUS g.95027284C>G g.92265002C>G IARS(NM_013417.3):c.1627G>C (p.E543Q) - IARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1700+10C>G r.(=) p.(=) Unknown - likely benign g.95027201G>C - IARS(NM_002161.6):c.1700+10C>G - IARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1701-4dup r.spl? p.? Unknown - likely benign g.95025348dup - IARS(NM_002161.6):c.1701-4dup - IARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1840A>G r.(?) p.(Ile614Val) Unknown - likely benign g.95022464T>C - IARS(NM_002161.5):c.1840A>G (p.(Ile614Val)) - IARS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1858dup r.(?) p.(Ala620Glyfs*2) Unknown - VUS g.95022446dup - IARS(NM_002161.6):c.1858dup (p.(Ala620Glyfs*2)) - IARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1942G>T r.(?) p.(Val648Phe) Unknown - VUS g.95021210C>A - IARS(NM_002161.6):c.1942G>T (p.(Val648Phe)) - IARS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2069A>G r.(?) p.(Asn690Ser) Unknown - VUS g.95019030T>C g.92256748T>C IARS(NM_013417.3):c.2069A>G (p.N690S) - IARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2135C>T r.(?) p.(Ala712Val) Unknown - VUS g.95018964G>A g.92256682G>A IARS(NM_013417.3):c.2135C>T (p.A712V) - IARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2140T>A r.(?) p.(Tyr714Asn) Unknown - VUS g.95015733A>T - IARS(NM_002161.6):c.2140T>A (p.(Tyr714Asn)) - IARS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2175G>A r.(?) p.(Lys725=) Unknown - likely benign g.95015698C>T g.92253416C>T IARS(NM_013417.3):c.2175G>A (p.K725=) - IARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2415G>C r.(?) p.(Met805Ile) Unknown - VUS g.95013009C>G - IARS1(NM_002161.6):c.2415G>C (p.M805I) - IARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2837G>A r.(?) p.(Arg946His) Unknown - likely benign g.95007308C>T g.92245026C>T IARS(NM_002161.5):c.2837G>A (p.(Arg946His)), IARS(NM_013417.3):c.2837G>A (p.R946H) - IARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2837G>A r.(?) p.(Arg946His) Unknown - likely benign g.95007308C>T - IARS(NM_002161.5):c.2837G>A (p.(Arg946His)), IARS(NM_013417.3):c.2837G>A (p.R946H) - IARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2974A>G r.(?) p.(Asn992Asp) Paternal (confirmed) - likely pathogenic (recessive) g.95005524T>C g.92243242T>C - - IARS_000027 - PubMed: Kopajtichk 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat3(83921) PubMed: Kopajtichk 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Australia - - - - - 1 Johan den Dunnen
-?/. - c.3136G>A r.(?) p.(Val1046Ile) Unknown - likely benign g.95004477C>T g.92242195C>T IARS(NM_002161.4):c.3136G>A (p.(Val1046Ile)) - IARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3262del r.(?) p.(Cys1088ValfsTer25) Unknown - VUS g.95003161del - IARS(NM_013417.3):c.3262delT (p.C1088Vfs*25) - IARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3377dup r.(?) p.(Asn1126Lysfs*9) Parent #2 - pathogenic (recessive) g.94991319dup g.92229037dup - - IARS_000004 - PubMed: Fuchs 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? P1 PubMed: Fuchs 2019 - F - - - 00y04m - - - 1 Johan den Dunnen
+/. - c.3377dup r.(?) p.(Asn1126Lysfs*9) Parent #2 - pathogenic (recessive) g.94991319dup g.92229037dup - - IARS_000004 - PubMed: Fuchs 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? P2 PubMed: Fuchs 2019 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.3377dup r.(?) p.(Asn1126LysfsTer9) Unknown - likely pathogenic g.94991319dup - IARS(NM_002161.6):c.3377dup (p.(Asn1126Lysfs*9)), IARS1(NM_013417.4):c.3377dupA (p.N1126Kfs*9) - IARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3377dup r.(?) p.(Asn1126LysfsTer9) Unknown - pathogenic g.94991319dup - IARS(NM_002161.6):c.3377dup (p.(Asn1126Lysfs*9)), IARS1(NM_013417.4):c.3377dupA (p.N1126Kfs*9) - IARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3521T>A r.(?) p.(Ile1174Asn) Maternal (confirmed) - likely pathogenic (recessive) g.94985660A>T g.92223378A>T - - IARS_000023 - PubMed: Kopajtichk 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat1(65269) PubMed: Kopajtichk 2016, , PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.3529C>T r.(?) p.(Gln1177*) Unknown - likely pathogenic g.94985652G>A - IARS(NM_013417.3):c.3529C>T (p.Q1177*) - IARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 32i c.3553+52G>A r.3553_3554= p.= Unknown - VUS g.94985576C>T g.92223294C>T - - IARS_000037 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-?/. - c.3726C>T r.(?) p.(Pro1242=) Unknown - likely benign g.94973152G>A - IARS(NM_013417.3):c.3726C>T (p.P1242=) - IARS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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